Variant report

Variant	nsv538002
Chromosome Location	chr5:180240674-180686563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11002)
CpG islands
(count:18445)
Chromatin interactive
region (count:602)
LncRNA
region (count:161)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:11002 , 50 per page) page: 1 2 3 4 5 6 7 ... 221

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180645045-180645699	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr5:180287641-180288731	GM12878	blood:	n/a	n/a
3	ATF2	chr5:180257642-180258201	GM12878	blood:	n/a	n/a
4	ATF2	chr5:180662187-180663340	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:180626111-180626600	GM12878	blood:	n/a	n/a
6	ATF2	chr5:180670583-180671187	GM12878	blood:	n/a	n/a
7	ATF2	chr5:180247668-180248301	GM12878	blood:	n/a	chr5:180248216-180248227
8	ATF2	chr5:180634467-180635073	GM12878	blood:	n/a	n/a
9	ATF2	chr5:180633646-180634128	GM12878	blood:	n/a	n/a
10	ATF2	chr5:180618437-180618973	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:180600391-180601312	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:180633603-180634178	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr5:180661875-180663858	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr5:180634492-180634950	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr5:180663987-180664551	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr5:180625980-180626592	GM12878	blood:	n/a	n/a
17	ATF2	chr5:180577206-180577782	GM12878	blood:	n/a	n/a
18	ATF2	chr5:180615302-180616162	GM12878	blood:	n/a	n/a
19	ATF2	chr5:180618471-180619027	GM12878	blood:	n/a	n/a
20	ATF2	chr5:180670478-180671699	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr5:180673053-180673633	GM12878	blood:	n/a	n/a
22	ATF2	chr5:180615273-180616161	GM12878	blood:	n/a	n/a
23	ATF2	chr5:180600472-180601391	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr5:180614508-180615141	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr5:180615298-180616172	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr5:180648671-180649714	GM12878	blood:	n/a	n/a
27	ATF2	chr5:180611127-180611547	GM12878	blood:	n/a	n/a
28	ATF2	chr5:180670394-180671251	GM12878	blood:	n/a	n/a
29	ATF2	chr5:180259450-180260089	GM12878	blood:	n/a	n/a
30	ATF2	chr5:180600358-180600783	GM12878	blood:	n/a	n/a
31	ATF2	chr5:180241124-180241744	GM12878	blood:	n/a	n/a
32	ATF2	chr5:180611045-180611422	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr5:180586284-180586636	GM12878	blood:	n/a	n/a
34	ATF2	chr5:180615351-180616129	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF2	chr5:180661491-180663427	GM12878	blood:	n/a	n/a
36	ATF2	chr5:180288318-180288726	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr5:180648681-180650693	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr5:180634421-180634948	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr5:180668304-180668889	GM12878	blood:	n/a	n/a
40	ATF2	chr5:180662149-180663433	GM12878	blood:	n/a	n/a
41	ATF2	chr5:180648393-180650897	GM12878	blood:	n/a	n/a
42	ATF2	chr5:180645045-180645606	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr5:180633385-180634155	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr5:180663404-180664293	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF2	chr5:180618532-180618998	H1-hESC	embryonic stem cell:	n/a	n/a
46	ATF2	chr5:180496864-180497387	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF2	chr5:180649910-180650777	GM12878	blood:	n/a	n/a
48	ATF2	chr5:180668503-180668933	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr5:180634380-180634967	GM12878	blood:	n/a	n/a
50	ATF2	chr5:180673159-180673729	H1-hESC	embryonic stem cell:	n/a	n/a

(count:18445 , 50 per page) page: 1 2 3 4 5 6 7 ... 369

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180628221-180628271	PFSK-1	brain:	n/a
2	chr5:180336487-180336537	SK-N-MC	brain:	n/a
3	chr5:180616570-180616620	Caco-2	colon:	n/a
4	chr5:180649677-180649727	ovcar-3	ovarian:	n/a
5	chr5:180612719-180612769	Hepatocyte	liver:	n/a
6	chr5:180670701-180670751	HCF	heart:	n/a
7	chr5:180467233-180467283	CMK	blood:	n/a
8	chr5:180631909-180631959	HUVEC	blood vessel:	n/a
9	chr5:180296196-180296246	HPAEpiC	pulmonary alveolar:	n/a
10	chr5:180597281-180597331	HCM	heart:	n/a
11	chr5:180274871-180274921	HCF	heart:	n/a
12	chr5:180397332-180397382	NHDF-neo	bronchial:	n/a
13	chr5:180429512-180429562	U87	brain:	n/a
14	chr5:180612719-180612769	HRPEpiC	eye:	n/a
15	chr5:180658112-180658162	SK-N-MC	brain:	n/a
16	chr5:180396076-180396126	AG04449	skin:	fetal
17	chr5:180258265-180258315	A549	lung:	n/a
18	chr5:180295053-180295103	HCM	heart:	n/a
19	chr5:180611441-180611491	T-47D	breast:	n/a
20	chr5:180617100-180617150	HL-60	blood:	n/a
21	chr5:180542340-180542390	SAEC	small airway:	n/a
22	chr5:180616343-180616393	ProgFib	skin:	n/a
23	chr5:180632375-180632425	HCT-116	colon:	n/a
24	chr5:180628221-180628271	PFSK-1	brain:	n/a
25	chr5:180336487-180336537	SK-N-MC	brain:	n/a
26	chr5:180616570-180616620	Caco-2	colon:	n/a
27	chr5:180649677-180649727	ovcar-3	ovarian:	n/a
28	chr5:180612719-180612769	Hepatocyte	liver:	n/a
29	chr5:180670701-180670751	HCF	heart:	n/a
30	chr5:180467233-180467283	CMK	blood:	n/a
31	chr5:180631909-180631959	HUVEC	blood vessel:	n/a
32	chr5:180296196-180296246	HPAEpiC	pulmonary alveolar:	n/a
33	chr5:180597281-180597331	HCM	heart:	n/a
34	chr5:180274871-180274921	HCF	heart:	n/a
35	chr5:180397332-180397382	NHDF-neo	bronchial:	n/a
36	chr5:180429512-180429562	U87	brain:	n/a
37	chr5:180612719-180612769	HRPEpiC	eye:	n/a
38	chr5:180658112-180658162	SK-N-MC	brain:	n/a
39	chr5:180396076-180396126	AG04449	skin:	fetal
40	chr5:180258265-180258315	A549	lung:	n/a
41	chr5:180295053-180295103	HCM	heart:	n/a
42	chr5:180611441-180611491	T-47D	breast:	n/a
43	chr5:180617100-180617150	HL-60	blood:	n/a
44	chr5:180542340-180542390	SAEC	small airway:	n/a
45	chr5:180616343-180616393	ProgFib	skin:	n/a
46	chr5:180632375-180632425	HCT-116	colon:	n/a
47	chr5:180287825-180287875	NT2-D1	testis:	n/a
48	chr5:180600655-180600705	ECC-1	luminal epithelium:	n/a
49	chr5:180659531-180659581	NHDF-neo	bronchial:	n/a
50	chr5:180650114-180650164	HCPEpiC	choroid plexus:	n/a

(count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Distal block	Cell Line	Cell type
1	chr5:180299298..180302725-chr5:180469235..180473886,4	K562	blood:
2	chr5:180505602..180508537-chr5:180510533..180512339,2	K562	blood:
3	chr5:180549026..180549554-chr5:180586494..180587402,2	K562	blood:
4	chr5:180460958..180463932-chr5:180470376..180472660,2	K562	blood:
5	chr5:180572568..180576574-chr5:180577652..180580980,4	K562	blood:
6	chr5:180288449..180290237-chr5:180454877..180456790,2	K562	blood:
7	chr5:180326248..180328763-chr5:180336023..180337765,2	MCF-7	breast:
8	chr5:180262394..180264164-chr5:180266350..180269420,3	K562	blood:
9	chr5:180264040..180267323-chr5:180286321..180289844,3	K562	blood:
10	chr5:180295710..180296339-chr5:180482283..180482883,2	MCF-7	breast:
11	chr1:45240723..45241532-chr5:180288059..180288632,2	Hela-S3	cervix:
12	chr5:180615049..180620262-chr5:180670874..180674700,8	MCF-7	breast:
13	chr5:180460958..180463932-chr5:180470376..180472660,2	K562	blood:
14	chr5:180296063..180296630-chr5:180471964..180472878,2	K562	blood:
15	chr5:180299186..180302514-chr5:180453782..180456636,3	K562	blood:
16	chr5:180611535..180614095-chr5:180687459..180689638,2	MCF-7	breast:
17	chr5:180586100..180593847-chr5:180647407..180651825,11	K562	blood:
18	chr5:180287214..180289015-chr5:180585051..180587382,2	K562	blood:
19	chr5:180587885..180592177-chr5:180609013..180612689,5	K562	blood:
20	chr5:180585341..180587606-chr5:180589079..180590758,2	K562	blood:
21	chr5:180603576..180605440-chr5:180607650..180609412,2	K562	blood:
22	chr5:180600310..180602103-chr5:180611128..180613842,3	MCF-7	breast:
23	chr5:180609112..180612809-chr5:180686593..180690206,4	MCF-7	breast:
24	chr5:180294405..180296902-chr5:180647490..180650285,2	K562	blood:
25	chr16:30709566..30710389-chr5:180650336..180650928,2	Hela-S3	cervix:
26	chr5:180532715..180535004-chr5:180542997..180545418,2	K562	blood:
27	chr5:180228019..180233439-chr5:180285963..180289843,10	MCF-7	breast:
28	chr5:180631798..180637613-chr5:180669396..180674950,8	MCF-7	breast:
29	chr5:180213340..180215269-chr5:180288720..180290898,2	K562	blood:
30	chr5:180453342..180456160-chr5:180457547..180460294,4	K562	blood:
31	chr5:180255602..180258511-chr5:180276329..180279939,4	K562	blood:
32	chr5:180255602..180258414-chr5:180276329..180278582,3	K562	blood:
33	chr5:180586347..180588278-chr5:180633181..180635258,2	K562	blood:
34	chr5:180584351..180587631-chr5:180609006..180610671,3	MCF-7	breast:
35	chr5:180217067..180219759-chr5:180269419..180271439,2	K562	blood:
36	chr5:180633407..180636404-chr5:180642278..180645609,5	MCF-7	breast:
37	chr5:180483955..180486622-chr5:180574696..180577538,2	MCF-7	breast:
38	chr5:180298037..180300826-chr5:180632111..180634844,2	MCF-7	breast:
39	chr5:180301189..180302712-chr5:180475521..180478007,2	K562	blood:
40	chr5:180497328..180500101-chr5:180510753..180512318,2	K562	blood:
41	chr5:41903577..41904409-chr5:180673462..180674052,2	Hela-S3	cervix:
42	chr5:180366651..180369556-chr5:180446299..180448293,2	K562	blood:
43	chr5:180585281..180589323-chr5:180667860..180672678,8	K562	blood:
44	chr5:180255951..180258750-chr5:180281317..180283710,2	K562	blood:
45	chr5:180295519..180296628-chr5:180577771..180578836,5	MCF-7	breast:
46	chr5:180236339..180239171-chr5:180585136..180588711,5	MCF-7	breast:
47	chr5:180527576..180529314-chr5:180650135..180652769,2	K562	blood:
48	chr5:180268107..180270885-chr5:180273192..180275547,2	MCF-7	breast:
49	chr5:180267794..180270369-chr5:180276389..180279164,3	K562	blood:
50	chr5:180236144..180237814-chr5:180510542..180512095,2	MCF-7	breast:

(count:161 , 50 per page) page: 1 2 3 4

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM41-1	chr5:180629200-180629305	ENSG00000250900.2
2	lnc-BTNL8-3	chr5:180258024-180258229	ENSG00000245060
3	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
4	lnc-TRIM41-2	chr5:180674116-180674386	ENSG00000233937.2
5	lnc-OR2V1-1	chr5:180472956-180473362	NONHSAT105858
6	lnc-TRIM41-3	chr5:180621234-180621486	NONHSAT105873
7	lnc-BTNL3-2	chr5:180486237-180486312	NONHSAT105863
8	lnc-TRIM41-3	chr5:180622778-180624243	l_3083_chr5:180620746-180623658_thyroid
9	lnc-TRIM41-2	chr5:180673523-180673882	ENSG00000233937.2
10	lnc-TRIM41-1	chr5:180625200-180625276	ENSG00000250900.2
11	lnc-MGAT1-2	chr5:180257708-180258946	XLOC_005110
12	lnc-TRIM41-2	chr5:180684188-180684587	NR_109909
13	lnc-TRIM41-1	chr5:180626549-180626591	ENSG00000250900.2
14	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105840
15	lnc-BTNL8-3	chr5:180258736-180258941	NR_027183
16	lnc-GNB2L1-2	chr5:180672876-180673232	NONHSAT105936
17	lnc-BTNL8-1	chr5:180296862-180296969	XLOC_004685
18	lnc-ZFP62-3	chr5:180242425-180242567	NONHSAT105809
19	lnc-MGAT1-2	chr5:180255314-180255379	XLOC_005110
20	lnc-TRIM41-2	chr5:180673525-180673882	ENSG00000233937.2
21	lnc-TRIM41-3	chr5:180621234-180621486	NONHSAT105875
22	lnc-ZFP62-2	chr5:180278988-180279060	NONHSAT105846
23	lnc-BTNL8-3	chr5:180257957-180258229	ENSG00000245060
24	lnc-TRIM41-3	chr5:180617942-180618442	NONHSAT105873
25	lnc-MGAT1-2	chr5:180253871-180254267	XLOC_005110
26	lnc-ZFP62-1	chr5:180262054-180262712	XLOC_005111
27	lnc-BTNL8-3	chr5:180261312-180262726	NR_045679
28	lnc-BTNL8-3	chr5:180258027-180258229	ENSG00000245060
29	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105838
30	lnc-BTNL9-1	chr5:180492086-180492677	NONHSAT105865
31	lnc-TRIM7-2	chr5:180618742-180618852	XLOC_005113
32	lnc-MGAT1-2	chr5:180257708-180258941	XLOC_005110
33	lnc-TRIM41-1	chr5:180629588-180630100	ENSG00000250900.2
34	lnc-OR2V2-1	chr5:180606079-180606324	NONHSAT105868
35	lnc-BTNL8-3	chr5:180258759-180258941	ENSG00000245060
36	lnc-BTNL8-3	chr5:180259673-180259860	NR_045679
37	lnc-BTNL8-3	chr5:180258736-180258806	NONHSAT105839
38	lnc-BTNL8-3	chr5:180258663-180258806	NONHSAT105841
39	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
40	lnc-BTNL3-3	chr5:180336573-180336697	NONHSAT105850
41	lnc-TRIM7-4	chr5:180615433-180615961	expReg_chr5_11102_-
42	lnc-BTNL3-2	chr5:180480469-180480501	NONHSAT105861
43	lnc-MGAT1-2	chr5:180256804-180257403	XLOC_005110
44	lnc-BTNL3-2	chr5:180481061-180481259	NONHSAT105863
45	lnc-BTNL3-2	chr5:180485352-180485378	NONHSAT105863
46	lnc-TRIM41-1	chr5:180626693-180626977	ENSG00000250900.2
47	lnc-MGAT1-2	chr5:180257608-180258229	XLOC_005110
48	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105841
49	lnc-TRIM41-2	chr5:180673901-180674386	ENSG00000233937.2
50	lnc-TRIM41-1	chr5:180629588-180630103	ENSG00000250900.2

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4638-5p	chr5:180649612-180649632	MIMAT0019695
hsa-miR-8089	chr5:180470413-180470436	MIMAT0031016
hsa-miR-4638-3p	chr5:180649577-180649599	MIMAT0019696

No data

Variant related genes	Relation type
OR2V2	TF binding region
LINC00847	TF binding region
ENSG00000250222	TF binding region
BTNL8	TF binding region
ENSG00000222852	TF binding region
TRIM7	TF binding region
ENSG00000231228	TF binding region
ENSG00000248761	TF binding region
RNU6-1036P	TF binding region
ENSG00000250900	TF binding region
ENSG00000248560	TF binding region
ENSG00000248514	TF binding region
ZFP62	TF binding region
OR2V1	TF binding region
TRIM41	TF binding region
MGAT1	TF binding region
FOXO1B	TF binding region
SNORD96A	TF binding region
ENSG00000249287	TF binding region
ENSG00000248473	TF binding region
MIR4638	TF binding region
RPS29P12	TF binding region
TRIM52-AS1	TF binding region
BTNL9	TF binding region
ENSG00000268397	TF binding region
ENSG00000233937	TF binding region
GNB2L1	TF binding region
ENSG00000247049	TF binding region
ENSG00000241870	TF binding region
SNORD95	TF binding region
BTNL3	TF binding region
OR2V2	CpG island
LINC00847	CpG island
ENSG00000250222	CpG island
BTNL8	CpG island
ENSG00000222852	CpG island
TRIM7	CpG island
ENSG00000231228	CpG island
ENSG00000248761	CpG island
RNU6-1036P	CpG island
ENSG00000250900	CpG island
ENSG00000248560	CpG island
ENSG00000248514	CpG island
ZFP62	CpG island
OR2V1	CpG island
TRIM41	CpG island
MGAT1	CpG island
FOXO1B	CpG island
SNORD96A	CpG island
ENSG00000249287	CpG island
ENSG00000248473	CpG island
MIR4638	CpG island
RPS29P12	CpG island
TRIM52-AS1	CpG island
BTNL9	CpG island
ENSG00000268397	CpG island
ENSG00000233937	CpG island
GNB2L1	CpG island
ENSG00000247049	CpG island
ENSG00000241870	CpG island
SNORD95	CpG island
BTNL3	CpG island
ENSG00000206686	chromatin interactions
ENSG00000118705	chromatin interactions
ENSG00000176912	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000158163	chromatin interactions
ENSG00000110066	chromatin interactions
ENSG00000256116	chromatin interactions
ENSG00000129932	chromatin interactions
ENSG00000188987	chromatin interactions
ENSG00000248560	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000134824	chromatin interactions
ENSG00000169813	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000014138	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000153113	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000011114	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000250903	chromatin interactions
ENSG00000173511	chromatin interactions
ENSG00000185761	chromatin interactions
ENSG00000188177	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000168903	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000064763	chromatin interactions
ENSG00000205765	chromatin interactions
ENSG00000198805	chromatin interactions
ENSG00000113303	chromatin interactions
ENSG00000198721	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000147894	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000241870	chromatin interactions
ENSG00000261777	chromatin interactions
ENSG00000258384	chromatin interactions
ENSG00000213563	chromatin interactions
ENSG00000156990	chromatin interactions
ENSG00000176890	chromatin interactions
ENSG00000101353	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000102531	chromatin interactions
ENSG00000250900	chromatin interactions
ENSG00000187266	chromatin interactions
ENSG00000250222	chromatin interactions
ENSG00000265345	chromatin interactions
ENSG00000250326	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000248103	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000254821	chromatin interactions
ENSG00000197162	chromatin interactions
ENSG00000198898	chromatin interactions
ENSG00000170185	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000183735	chromatin interactions
ENSG00000162407	chromatin interactions
ENSG00000112699	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000173801	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000272296	chromatin interactions
ENSG00000112210	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000272205	chromatin interactions
ENSG00000162409	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000175567	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000166225	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000185372	chromatin interactions
ENSG00000247049	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000171135	chromatin interactions
ENSG00000248473	chromatin interactions
ENSG00000253320	chromatin interactions
ENSG00000163946	chromatin interactions
ENSG00000222852	chromatin interactions
ENSG00000133958	chromatin interactions
ENSG00000262468	chromatin interactions
ENSG00000130270	chromatin interactions
ENSG00000104472	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000134318	chromatin interactions
ENSG00000166503	chromatin interactions
ENSG00000177156	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000155096	chromatin interactions
ENSG00000102554	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000182613	chromatin interactions
ENSG00000260167	chromatin interactions
ENSG00000166965	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000112081	chromatin interactions
ENSG00000243664	chromatin interactions
ENSG00000108953	chromatin interactions
ENSG00000267649	chromatin interactions
NIN	miRNA target sites
BTG2	miRNA target sites
CCNJ	miRNA target sites
ASCC3	miRNA target sites
HEBP2	miRNA target sites
IL1B	miRNA target sites
CLINT1	miRNA target sites
DMXL1	miRNA target sites
CCDC76	miRNA target sites
RNF144A	miRNA target sites
WTAP	miRNA target sites
CHD9	miRNA target sites
RNF141	miRNA target sites
SOCS5	miRNA target sites
SHOC2	miRNA target sites
ZNF785	miRNA target sites
SOS2	miRNA target sites
TGFB2	miRNA target sites
CDC34	miRNA target sites

Extended variants
information (count: 17200 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:17200 , 50 per page) page: 1 2 3 4 5 6 7 ... 344

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556059659	chr5:180240697-180240698	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs190981917	chr5:180240712-180240713	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs115052250	chr5:180240754-180240755	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs182884715	chr5:180240756-180240757	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs77797826	chr5:180240757-180240758	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs144789361	chr5:180240784-180240785	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558996354	chr5:180240793-180240794	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs576124598	chr5:180240813-180240814	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs551729249	chr5:180240846-180240847	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs568615876	chr5:180240878-180240879	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs373471885	chr5:180240885-180240886	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs541744992	chr5:180240909-180240910	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs561605083	chr5:180240938-180240939	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs551109643	chr5:180240962-180240963	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs118168080	chr5:180240995-180240996	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs567775381	chr5:180241033-180241034	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs531265900	chr5:180241050-180241051	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs79917991	chr5:180241057-180241058	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs187563152	chr5:180241145-180241146	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs192499547	chr5:180241203-180241204	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs549709174	chr5:180241220-180241221	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs568683859	chr5:180241248-180241249	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs566368781	chr5:180241254-180241255	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs533818169	chr5:180241271-180241272	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs183299127	chr5:180241290-180241291	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs570490148	chr5:180241306-180241307	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs536741701	chr5:180241310-180241311	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs555959702	chr5:180241332-180241333	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs534111210	chr5:180241362-180241363	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs117227309	chr5:180241408-180241409	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs645845	chr5:180241414-180241415	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555280326	chr5:180241472-180241473	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs572002727	chr5:180241473-180241474	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs375733828	chr5:180241481-180241482	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs371367452	chr5:180241545-180241546	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs187630514	chr5:180241574-180241575	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs564489836	chr5:180241609-180241610	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs192220798	chr5:180241624-180241625	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs200799566	chr5:180241626-180241627	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs646806	chr5:180241640-180241641	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs647131	chr5:180241664-180241665	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs576617339	chr5:180241675-180241676	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs148553153	chr5:180241679-180241680	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs535991077	chr5:180241681-180241682	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs144324080	chr5:180241713-180241714	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs561537527	chr5:180241767-180241768	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs184432840	chr5:180241801-180241802	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs528779830	chr5:180241804-180241805	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs555892056	chr5:180241811-180241812	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs551756554	chr5:180241829-180241830	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Mental retardation	20877625	CNVD
Medulloblastoma	21163964	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:12084 , 50 per page) page: 1 2 3 4 5 6 7 ... 242

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180237800-180241800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr5:180238200-180245000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:180238400-180242200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:180238400-180243400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:180238400-180243600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:180238600-180242200	Weak transcription	Fetal Kidney	kidney
7	chr5:180238600-180243600	Weak transcription	NH-A	brain
8	chr5:180238600-180244000	Weak transcription	HSMMtube	muscle
9	chr5:180238600-180244000	Weak transcription	NHLF	lung
10	chr5:180238800-180242000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:180238800-180242200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:180238800-180242200	Weak transcription	Osteobl	bone
13	chr5:180238800-180243600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:180238800-180243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:180238800-180243600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:180238800-180243800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:180238800-180243800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:180238800-180243800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:180238800-180243800	Weak transcription	NHDF-Ad	bronchial
20	chr5:180238800-180253200	Weak transcription	A549	lung
21	chr5:180239000-180240800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:180239000-180241000	Weak transcription	Colonic Mucosa	Colon
23	chr5:180239000-180241200	Weak transcription	Brain Anterior Caudate	brain
24	chr5:180239000-180242000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:180239000-180242000	Weak transcription	Right Ventricle	heart
26	chr5:180239000-180242000	Weak transcription	Spleen	Spleen
27	chr5:180239000-180242200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:180239000-180242200	Weak transcription	HUVEC	blood vessel
29	chr5:180239000-180242400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:180239000-180243000	Active TSS	Right Atrium	heart
31	chr5:180239000-180243400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:180239000-180243600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:180239000-180243600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:180239000-180243600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:180239000-180243600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:180239000-180243600	Weak transcription	Fetal Stomach	stomach
37	chr5:180239000-180244000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:180239000-180244800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:180239000-180245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:180239000-180247400	Weak transcription	Brain Substantia Nigra	brain
41	chr5:180239200-180240800	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:180239200-180241000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:180239200-180241400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:180239200-180241400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:180239200-180241400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:180239200-180241600	Weak transcription	Lung	lung
47	chr5:180239200-180242000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:180239200-180242000	Active TSS	Adipose Nuclei	Adipose
49	chr5:180239200-180242000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:180239200-180242000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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