Variant report

Variant	nsv1022107
Chromosome Location	chr5:180203044-180686563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12938)
CpG islands
(count:21073)
Chromatin interactive
region (count:682)
LncRNA
region (count:182)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180615298-180616172	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr5:180644965-180645583	GM12878	blood:	n/a	n/a
3	ATF2	chr5:180625980-180626592	GM12878	blood:	n/a	n/a
4	ATF2	chr5:180661491-180663427	GM12878	blood:	n/a	n/a
5	ATF2	chr5:180633646-180634128	GM12878	blood:	n/a	n/a
6	ATF2	chr5:180634421-180634948	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr5:180237161-180237598	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:180615351-180616129	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr5:180633519-180634089	GM12878	blood:	n/a	n/a
10	ATF2	chr5:180645045-180645606	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:180287641-180288731	GM12878	blood:	n/a	n/a
12	ATF2	chr5:180247668-180248301	GM12878	blood:	n/a	chr5:180248216-180248227
13	ATF2	chr5:180586284-180586636	GM12878	blood:	n/a	n/a
14	ATF2	chr5:180257642-180258201	GM12878	blood:	n/a	n/a
15	ATF2	chr5:180295130-180295721	GM12878	blood:	n/a	n/a
16	ATF2	chr5:180661875-180663858	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr5:180257705-180258044	GM12878	blood:	n/a	n/a
18	ATF2	chr5:180634467-180635073	GM12878	blood:	n/a	n/a
19	ATF2	chr5:180230642-180231278	GM12878	blood:	n/a	n/a
20	ATF2	chr5:180611127-180611547	GM12878	blood:	n/a	n/a
21	ATF2	chr5:180668503-180668933	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr5:180230701-180231257	GM12878	blood:	n/a	n/a
23	ATF2	chr5:180212570-180213141	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr5:180618473-180618951	GM12878	blood:	n/a	n/a
25	ATF2	chr5:180663404-180664293	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr5:180615273-180616161	GM12878	blood:	n/a	n/a
27	ATF2	chr5:180236745-180237952	GM12878	blood:	n/a	n/a
28	ATF2	chr5:180614525-180615119	GM12878	blood:	n/a	n/a
29	ATF2	chr5:180625919-180626341	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr5:180648681-180650693	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr5:180600358-180600783	GM12878	blood:	n/a	n/a
32	ATF2	chr5:180663987-180664551	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr5:180648393-180650897	GM12878	blood:	n/a	n/a
34	ATF2	chr5:180673053-180673633	GM12878	blood:	n/a	n/a
35	ATF2	chr5:180600329-180600889	GM12878	blood:	n/a	n/a
36	ATF2	chr5:180287523-180287977	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr5:180673159-180673729	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr5:180618532-180618998	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr5:180618437-180618973	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr5:180662187-180663340	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF2	chr5:180662149-180663433	GM12878	blood:	n/a	n/a
42	ATF2	chr5:180633385-180634155	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr5:180577206-180577782	GM12878	blood:	n/a	n/a
44	ATF2	chr5:180615302-180616162	GM12878	blood:	n/a	n/a
45	ATF2	chr5:180614414-180614959	H1-hESC	embryonic stem cell:	n/a	n/a
46	ATF2	chr5:180496757-180497469	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF2	chr5:180634380-180634967	GM12878	blood:	n/a	n/a
48	ATF2	chr5:180587370-180587754	GM12878	blood:	n/a	n/a
49	ATF2	chr5:180600472-180601391	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF2	chr5:180648671-180649714	GM12878	blood:	n/a	n/a

(count:21073 , 50 per page) page: 1 2 3 4 5 6 7 ... 422

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180671419-180671469	HRE	kidney:	n/a
2	chr5:180670930-180670980	HEK293	kidney:	embryo
3	chr5:180673604-180673654	T-47D	breast:	n/a
4	chr5:180467233-180467283	HIPEpiC	eye:	n/a
5	chr5:180651585-180651635	Hepatocyte	liver:	n/a
6	chr5:180485130-180485180	LNCaP	prostate:	n/a
7	chr5:180596864-180596914	ProgFib	skin:	n/a
8	chr5:180460316-180460366	GM12878	blood:	n/a
9	chr5:180632375-180632425	K562	blood:	n/a
10	chr5:180617633-180617683	AG04450	lung:	fetal
11	chr5:180397496-180397546	IMR90	lung:	fetal
12	chr5:180230767-180230817	NHDF-neo	bronchial:	n/a
13	chr5:180542581-180542631	GM12891	blood:	n/a
14	chr5:180596864-180596914	U87	brain:	n/a
15	chr5:180284090-180284140	NT2-D1	testis:	n/a
16	chr5:180230130-180230180	AG04450	lung:	fetal
17	chr5:180650950-180651000	AoSMC	blood vessel:	n/a
18	chr5:180615482-180615532	NHDF-neo	bronchial:	n/a
19	chr5:180527369-180527419	A549	lung:	n/a
20	chr5:180673604-180673654	GM06990	blood:	n/a
21	chr5:180219412-180219462	AG09319	gingival:	n/a
22	chr5:180673286-180673336	HepG2	liver:	n/a
23	chr5:180649609-180649659	IMR90	lung:	fetal
24	chr5:180627973-180628023	HAEpiC	amniotic membrane:	n/a
25	chr5:180643432-180643482	NHDF-neo	bronchial:	n/a
26	chr5:180469248-180469298	MCF10A-Er-Src	breast:	n/a
27	chr5:180479586-180479636	SK-N-MC	brain:	n/a
28	chr5:180497114-180497164	K562	blood:	n/a
29	chr5:180671419-180671469	HRE	kidney:	n/a
30	chr5:180670930-180670980	HEK293	kidney:	embryo
31	chr5:180673604-180673654	T-47D	breast:	n/a
32	chr5:180467233-180467283	HIPEpiC	eye:	n/a
33	chr5:180651585-180651635	Hepatocyte	liver:	n/a
34	chr5:180485130-180485180	LNCaP	prostate:	n/a
35	chr5:180596864-180596914	ProgFib	skin:	n/a
36	chr5:180460316-180460366	GM12878	blood:	n/a
37	chr5:180632375-180632425	K562	blood:	n/a
38	chr5:180617633-180617683	AG04450	lung:	fetal
39	chr5:180397496-180397546	IMR90	lung:	fetal
40	chr5:180230767-180230817	NHDF-neo	bronchial:	n/a
41	chr5:180542581-180542631	GM12891	blood:	n/a
42	chr5:180596864-180596914	U87	brain:	n/a
43	chr5:180284090-180284140	NT2-D1	testis:	n/a
44	chr5:180230130-180230180	AG04450	lung:	fetal
45	chr5:180650950-180651000	AoSMC	blood vessel:	n/a
46	chr5:180615482-180615532	NHDF-neo	bronchial:	n/a
47	chr5:180527369-180527419	A549	lung:	n/a
48	chr5:180673604-180673654	GM06990	blood:	n/a
49	chr5:180219412-180219462	AG09319	gingival:	n/a
50	chr5:180673286-180673336	HepG2	liver:	n/a

(count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Distal block	Cell Line	Cell type
1	chr5:180563839..180567081-chr5:180578123..180580410,3	K562	blood:
2	chr5:180286239..180288260-chr5:180648359..180651048,2	K562	blood:
3	chr5:180257440..180260196-chr5:180299299..180300972,2	K562	blood:
4	chr5:180222666..180225025-chr5:180609526..180611478,2	K562	blood:
5	chr5:180265528..180270549-chr5:180272492..180276468,5	K562	blood:
6	chr5:180564824..180566686-chr5:180567369..180569033,2	MCF-7	breast:
7	chr5:180221672..180224385-chr5:180256701..180259508,2	K562	blood:
8	chr11:746169..748317-chr5:180672585..180675032,2	MCF-7	breast:
9	chr5:180515138..180516679-chr5:180518430..180520704,2	MCF-7	breast:
10	chr5:180236339..180239171-chr5:180585136..180588711,5	MCF-7	breast:
11	chr5:180262800..180265052-chr5:180289131..180291113,2	MCF-7	breast:
12	chr5:180469845..180471985-chr5:180546983..180548587,2	K562	blood:
13	chr5:180301189..180302712-chr5:180475521..180478007,2	K562	blood:
14	chr5:180532591..180536444-chr5:180550916..180553935,4	K562	blood:
15	chr5:180472682..180475015-chr5:180511860..180514210,2	K562	blood:
16	chr5:180572782..180577534-chr5:180586805..180590598,4	K562	blood:
17	chr5:180448779..180452814-chr5:180453079..180456641,7	K562	blood:
18	chr5:180613310..180615810-chr5:180617165..180619318,3	MCF-7	breast:
19	chr5:180659417..180661225-chr6:26188646..26190614,2	K562	blood:
20	chr5:180276415..180280791-chr5:180286128..180289420,6	K562	blood:
21	chr3:9884969..9885557-chr5:180650219..180650734,2	Hela-S3	cervix:
22	chr19:55727982..55728738-chr5:180662807..180663631,2	Hela-S3	cervix:
23	chr5:180600310..180602103-chr5:180611128..180613842,3	MCF-7	breast:
24	chr5:180590099..180592059-chr5:180613861..180616071,3	K562	blood:
25	chr5:180615049..180620262-chr5:180670874..180674700,8	MCF-7	breast:
26	chr5:180253850..180256839-chr5:180278245..180279769,2	MCF-7	breast:
27	chr5:180460958..180463932-chr5:180470376..180472660,2	K562	blood:
28	chr2:11484578..11486921-chr5:180662877..180664430,2	MCF-7	breast:
29	chr5:180619309..180622269-chr5:180667770..180671387,3	MCF-7	breast:
30	chr5:180207628..180210924-chr5:180228309..180230947,5	MCF-7	breast:
31	chr5:180286995..180288791-chr5:180545725..180548508,2	K562	blood:
32	chr5:180478714..180480643-chr5:180594154..180595896,2	K562	blood:
33	chr5:180549261..180551621-chr5:180581841..180584184,2	K562	blood:
34	chr5:180235042..180237389-chr5:180478228..180480101,2	K562	blood:
35	chr1:45240723..45241532-chr5:180288059..180288632,2	Hela-S3	cervix:
36	chr5:180649647..180650242-chr6:57086923..57087520,2	Hela-S3	cervix:
37	chr5:180298383..180301359-chr5:180535092..180536646,2	K562	blood:
38	chr5:180287893..180289951-chr5:180479708..180482492,2	K562	blood:
39	chr17:19410589..19411089-chr5:180635302..180635803,2	NB4	blood:
40	chr5:40835246..40835914-chr5:180228933..180229470,2	Hela-S3	cervix:
41	chr5:180234969..180240620-chr5:180256376..180260296,6	K562	blood:
42	chr5:180256710..180258526-chr5:180275474..180278085,2	MCF-7	breast:
43	chr5:180208930..180211085-chr5:180226767..180229407,2	K562	blood:
44	chr5:180584351..180587631-chr5:180609006..180610671,3	MCF-7	breast:
45	chr5:180216578..180217657-chr5:180225674..180226614,3	MCF-7	breast:
46	chr5:180216327..180219256-chr5:180485099..180486798,2	K562	blood:
47	chr5:180554193..180556799-chr5:180583640..180586517,2	K562	blood:
48	chr5:180572568..180576574-chr5:180577652..180580980,4	K562	blood:
49	chr5:180228031..180230833-chr5:180251681..180254040,4	K562	blood:
50	chr5:180650449..180651104-chr6:2245494..2246192,2	NB4	blood:

(count:182 , 50 per page) page: 1 2 3 4

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM41-3	chr5:180621234-180621428	ENSG00000250222.1
2	lnc-ZFP62-3	chr5:180235838-180236076	NONHSAT105813
3	lnc-TRIM7-2	chr5:180618046-180618345	NR_108031
4	lnc-TRIM7-1	chr5:180632994-180633120	XLOC_005114
5	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105839
6	lnc-ZFP62-3	chr5:180229680-180229767	NONHSAT105810
7	lnc-TRIM41-1	chr5:180626373-180626591	ENSG00000250900.2
8	lnc-MGAT1-2	chr5:180257008-180257406	XLOC_005110
9	lnc-ZFP62-3	chr5:180242414-180242652	NONHSAT105816
10	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105842
11	lnc-GNB2L1-3	chr5:180630118-180630640	NONHSAT105886
12	lnc-ZFP62-3	chr5:180237040-180237440	NONHSAT105818
13	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105838
14	lnc-ZFP62-3	chr5:180235836-180236076	NONHSAT105812
15	lnc-BTNL8-3	chr5:180257672-180258618	ENSG00000249705
16	lnc-ZFP62-3	chr5:180235839-180236066	NONHSAT105814
17	lnc-BTNL3-2	chr5:180480469-180480501	NONHSAT105861
18	lnc-BTNL8-6	chr5:180237297-180238375	NONHSAT105819
19	lnc-OR2V1-1	chr5:180472735-180472836	NONHSAT105858
20	lnc-TRIM41-3	chr5:180621234-180621486	NONHSAT105873
21	lnc-MGAT1-2	chr5:180257608-180258229	XLOC_005110
22	lnc-ZFP62-2	chr5:180278988-180279060	NONHSAT105846
23	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
24	lnc-MGAT1-2	chr5:180256956-180257430	ENSG00000249705
25	lnc-TRIM41-1	chr5:180626549-180626591	ENSG00000250900.2
26	lnc-TRIM41-2	chr5:180673901-180674386	ENSG00000233937.2
27	lnc-TRIM41-2	chr5:180685902-180688385	NONHSAT105941
28	lnc-BTNL8-3	chr5:180258736-180258941	NR_027183
29	lnc-BTNL8-1	chr5:180297962-180298361	XLOC_004685
30	lnc-TRIM41-1	chr5:180629588-180630101	ENSG00000250900.2
31	lnc-BTNL8-3	chr5:180258736-180258806	NONHSAT105839
32	lnc-TRIM41-2	chr5:180684188-180684587	ENSG00000233937.2
33	lnc-TRIM41-2	chr5:180684188-180684587	NR_109909
34	lnc-TRIM41-1	chr5:180629588-180630103	ENSG00000250900.2
35	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105839
36	lnc-BTNL8-3	chr5:180257957-180258229	NR_027183
37	lnc-MGAT1-2	chr5:180256937-180257406	XLOC_005110
38	lnc-TRIM41-3	chr5:180620342-180620467	ENSG00000250222.1
39	lnc-ZFP62-3	chr5:180237729-180237938	NONHSAT105815
40	lnc-MGAT1-2	chr5:180257708-180259036	XLOC_005110
41	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
42	lnc-BTNL8-3	chr5:180256956-180257430	ENSG00000249705
43	lnc-MGAT1-2	chr5:180257672-180258618	ENSG00000249705
44	lnc-TRIM41-2	chr5:180673541-180673882	NR_109909
45	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105842
46	lnc-TRIM7-2	chr5:180617942-180618345	NONHSAT105872
47	lnc-ZFP62-1	chr5:180261303-180261596	XLOC_005111
48	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105836
49	lnc-TRIM41-1	chr5:180625200-180625276	ENSG00000250900.2
50	lnc-TRIM41-2	chr5:180673523-180673882	ENSG00000233937.2

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

No data

Variant related genes	Relation type
ENSG00000231228	TF binding region
ENSG00000248761	TF binding region
RNU6-1036P	TF binding region
ENSG00000248560	TF binding region
ENSG00000248514	TF binding region
ZFP62	TF binding region
TRIM41	TF binding region
FOXO1B	TF binding region
ENSG00000249287	TF binding region
ENSG00000260841	TF binding region
MIR4638	TF binding region
RPS29P12	TF binding region
ENSG00000268397	TF binding region
ENSG00000233937	TF binding region
GNB2L1	TF binding region
ENSG00000247049	TF binding region
ENSG00000241870	TF binding region
BTNL3	TF binding region
OR2V2	TF binding region
LINC00847	TF binding region
ENSG00000250222	TF binding region
BTNL8	TF binding region
ENSG00000222852	TF binding region
TRIM7	TF binding region
ENSG00000250900	TF binding region
OR2V1	TF binding region
MGAT1	TF binding region
SNORD96A	TF binding region
ENSG00000248473	TF binding region
TRIM52-AS1	TF binding region
BTNL9	TF binding region
SNORD95	TF binding region
ENSG00000231228	CpG island
ENSG00000248761	CpG island
RNU6-1036P	CpG island
ENSG00000248560	CpG island
ENSG00000248514	CpG island
ZFP62	CpG island
TRIM41	CpG island
FOXO1B	CpG island
ENSG00000249287	CpG island
ENSG00000260841	CpG island
MIR4638	CpG island
RPS29P12	CpG island
ENSG00000268397	CpG island
ENSG00000233937	CpG island
GNB2L1	CpG island
ENSG00000247049	CpG island
ENSG00000241870	CpG island
BTNL3	CpG island
OR2V2	CpG island
LINC00847	CpG island
ENSG00000250222	CpG island
BTNL8	CpG island
ENSG00000222852	CpG island
TRIM7	CpG island
ENSG00000250900	CpG island
OR2V1	CpG island
MGAT1	CpG island
SNORD96A	CpG island
ENSG00000248473	CpG island
TRIM52-AS1	CpG island
BTNL9	CpG island
SNORD95	CpG island
ENSG00000081791	chromatin interactions
ENSG00000101353	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000175567	chromatin interactions
ENSG00000188177	chromatin interactions
ENSG00000102554	chromatin interactions
ENSG00000159110	chromatin interactions
ENSG00000176912	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000155096	chromatin interactions
ENSG00000250222	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000268397	chromatin interactions
ENSG00000110066	chromatin interactions
ENSG00000206686	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000134824	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000169813	chromatin interactions
ENSG00000158163	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000176890	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000215256	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000247049	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000108953	chromatin interactions
ENSG00000198898	chromatin interactions
ENSG00000272296	chromatin interactions
ENSG00000248473	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000262468	chromatin interactions
ENSG00000134318	chromatin interactions
ENSG00000163946	chromatin interactions
ENSG00000267649	chromatin interactions
ENSG00000102531	chromatin interactions
ENSG00000173801	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000112081	chromatin interactions
ENSG00000166965	chromatin interactions
ENSG00000272205	chromatin interactions
ENSG00000130270	chromatin interactions
ENSG00000198721	chromatin interactions
ENSG00000256116	chromatin interactions
ENSG00000157326	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000213563	chromatin interactions
ENSG00000205765	chromatin interactions
ENSG00000250326	chromatin interactions
ENSG00000170185	chromatin interactions
ENSG00000156990	chromatin interactions
ENSG00000253320	chromatin interactions
ENSG00000114209	chromatin interactions
ENSG00000243664	chromatin interactions
ENSG00000113303	chromatin interactions
ENSG00000254821	chromatin interactions
ENSG00000187266	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000171135	chromatin interactions
ENSG00000185761	chromatin interactions
ENSG00000185372	chromatin interactions
ENSG00000241870	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000259826	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000261777	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000265345	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000188987	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000118705	chromatin interactions
ENSG00000065883	chromatin interactions
ENSG00000162407	chromatin interactions
ENSG00000166225	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000197162	chromatin interactions
ENSG00000222852	chromatin interactions
ENSG00000112699	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000173511	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000258384	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000162409	chromatin interactions
ENSG00000064763	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000153113	chromatin interactions
ENSG00000250903	chromatin interactions
ENSG00000129932	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000248103	chromatin interactions
ENSG00000250900	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000166503	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000112210	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000183735	chromatin interactions
ENSG00000104472	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000133958	chromatin interactions
ENSG00000168903	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000011114	chromatin interactions
ENSG00000147894	chromatin interactions
ENSG00000182613	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000177156	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000014138	chromatin interactions
ENSG00000260167	chromatin interactions
ENSG00000248560	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000198805	chromatin interactions
RNF141	miRNA target sites
WTAP	miRNA target sites
CCDC76	miRNA target sites
CLINT1	miRNA target sites
IL1B	miRNA target sites
HEBP2	miRNA target sites
SOCS5	miRNA target sites
RNF144A	miRNA target sites
ZNF785	miRNA target sites
CCNJ	miRNA target sites
CHD9	miRNA target sites
DMXL1	miRNA target sites
CDC34	miRNA target sites
SHOC2	miRNA target sites
TGFB2	miRNA target sites
SOS2	miRNA target sites
NIN	miRNA target sites
BTG2	miRNA target sites
ASCC3	miRNA target sites

Extended variants
information (count: 18860 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:18860 , 50 per page) page: 1 2 3 4 5 6 7 ... 378

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537471311	chr5:180203056-180203057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545012184	chr5:180203112-180203113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558097104	chr5:180203117-180203118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571514258	chr5:180203279-180203280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79953001	chr5:180203293-180203294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543900285	chr5:180203312-180203313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537137655	chr5:180203324-180203325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7723427	chr5:180203326-180203327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370995026	chr5:180203344-180203345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540183853	chr5:180203346-180203347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560416367	chr5:180203385-180203386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150170561	chr5:180203396-180203397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552549173	chr5:180203409-180203410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11271563	chr5:180203441-180203442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59396100	chr5:180203461-180203462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374552302	chr5:180203462-180203463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143515358	chr5:180203464-180203465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147512587	chr5:180203466-180203467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140034338	chr5:180203467-180203468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371246167	chr5:180203472-180203473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375500938	chr5:180203474-180203475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142986052	chr5:180203475-180203476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368516207	chr5:180203477-180203478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367550713	chr5:180203479-180203480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187617098	chr5:180203486-180203487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28476782	chr5:180203491-180203492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200167142	chr5:180203494-180203495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79958116	chr5:180203504-180203505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371338006	chr5:180203507-180203508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7709579	chr5:180203513-180203514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115042318	chr5:180203517-180203518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374906552	chr5:180203518-180203519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368110492	chr5:180203527-180203528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534382807	chr5:180203528-180203529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553111843	chr5:180203530-180203531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554045972	chr5:180203533-180203534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377121110	chr5:180203536-180203537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199575847	chr5:180203543-180203544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201044148	chr5:180203549-180203550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192103231	chr5:180203551-180203552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148024087	chr5:180203564-180203565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185042582	chr5:180203625-180203626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574884476	chr5:180203626-180203627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142858589	chr5:180203679-180203680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554220798	chr5:180203724-180203725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56126014	chr5:180203733-180203734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574419222	chr5:180203776-180203777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35724777	chr5:180203788-180203789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77981918	chr5:180203792-180203793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34132355	chr5:180203861-180203862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	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:14738 , 50 per page) page: 1 2 3 4 5 6 7 ... 295

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180202800-180206000	Weak transcription	K562	blood
2	chr5:180203000-180212400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:180204400-180215400	Weak transcription	Primary B cells from cord blood	blood
4	chr5:180205200-180209800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:180205600-180211800	Weak transcription	Liver	Liver
6	chr5:180205800-180212400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:180206000-180208400	Enhancers	K562	blood
8	chr5:180206000-180212200	Weak transcription	Lung	lung
9	chr5:180206200-180209800	Weak transcription	Primary T cells from cord blood	blood
10	chr5:180206600-180212400	Weak transcription	Aorta	Aorta
11	chr5:180206800-180210800	Weak transcription	Esophagus	oesophagus
12	chr5:180207000-180207200	Enhancers	Right Atrium	heart
13	chr5:180207000-180214600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:180207200-180212200	Weak transcription	Right Atrium	heart
15	chr5:180207200-180212400	Weak transcription	Fetal Intestine Large	intestine
16	chr5:180207800-180210800	Weak transcription	Placenta	Placenta
17	chr5:180208000-180212000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:180208000-180212400	Weak transcription	Psoas Muscle	Psoas
19	chr5:180208400-180208600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:180208400-180210000	Flanking Active TSS	K562	blood
21	chr5:180209200-180214000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:180209200-180214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:180209400-180209800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr5:180209400-180209800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:180209400-180210200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:180209600-180210000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:180209600-180210000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr5:180209600-180210200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:180209600-180210400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr5:180209800-180210400	Enhancers	Primary T cells from cord blood	blood
31	chr5:180209800-180211000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr5:180209800-180212200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:180209800-180213200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr5:180210000-180210200	Enhancers	Colon Smooth Muscle	Colon
35	chr5:180210000-180210400	Enhancers	Thymus	Thymus
36	chr5:180210000-180211200	Enhancers	K562	blood
37	chr5:180210000-180214000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:180210000-180217800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:180210200-180210400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:180210200-180210600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:180210200-180211200	Enhancers	Fetal Thymus	thymus
42	chr5:180210200-180212400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:180210200-180212400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:180210200-180217400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr5:180210400-180210600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:180210400-180210800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:180210400-180211000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:180210400-180211000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:180210400-180211000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:180210400-180212200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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