Variant report

Variant	nsv1018788
Chromosome Location	chr5:180216969-180686563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12534)
CpG islands
(count:21011)
Chromatin interactive
region (count:663)
LncRNA
region (count:182)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:12534 , 50 per page) page: 1 2 3 4 5 6 7 ... 251

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180633603-180634178	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr5:180600358-180600783	GM12878	blood:	n/a	n/a
3	ATF2	chr5:180625919-180626341	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:180633646-180634128	GM12878	blood:	n/a	n/a
5	ATF2	chr5:180626111-180626600	GM12878	blood:	n/a	n/a
6	ATF2	chr5:180645045-180645699	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr5:180673053-180673633	GM12878	blood:	n/a	n/a
8	ATF2	chr5:180618471-180619027	GM12878	blood:	n/a	n/a
9	ATF2	chr5:180645045-180645606	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr5:180496864-180497387	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:180648681-180650693	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:180615273-180616161	GM12878	blood:	n/a	n/a
13	ATF2	chr5:180288318-180288726	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr5:180611045-180611422	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr5:180670583-180671187	GM12878	blood:	n/a	n/a
16	ATF2	chr5:180668304-180668889	GM12878	blood:	n/a	n/a
17	ATF2	chr5:180661875-180663858	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr5:180662187-180663340	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr5:180259450-180260089	GM12878	blood:	n/a	n/a
20	ATF2	chr5:180618473-180618951	GM12878	blood:	n/a	n/a
21	ATF2	chr5:180663987-180664551	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr5:180600391-180601312	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr5:180618532-180618998	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr5:180615298-180616172	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr5:180614525-180615119	GM12878	blood:	n/a	n/a
26	ATF2	chr5:180230701-180231257	GM12878	blood:	n/a	n/a
27	ATF2	chr5:180633385-180634155	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr5:180670510-180671616	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr5:180230642-180231278	GM12878	blood:	n/a	n/a
30	ATF2	chr5:180634467-180635073	GM12878	blood:	n/a	n/a
31	ATF2	chr5:180662149-180663433	GM12878	blood:	n/a	n/a
32	ATF2	chr5:180670394-180671251	GM12878	blood:	n/a	n/a
33	ATF2	chr5:180648393-180650897	GM12878	blood:	n/a	n/a
34	ATF2	chr5:180648644-180650838	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF2	chr5:180614453-180615179	GM12878	blood:	n/a	n/a
36	ATF2	chr5:180633519-180634089	GM12878	blood:	n/a	n/a
37	ATF2	chr5:180600472-180601391	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr5:180258377-180258920	GM12878	blood:	n/a	n/a
39	ATF2	chr5:180644965-180645583	GM12878	blood:	n/a	n/a
40	ATF2	chr5:180649910-180650777	GM12878	blood:	n/a	n/a
41	ATF2	chr5:180634421-180634948	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF2	chr5:180673159-180673729	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr5:180237161-180237598	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr5:180673088-180673495	GM12878	blood:	n/a	n/a
45	ATF2	chr5:180625980-180626592	GM12878	blood:	n/a	n/a
46	ATF2	chr5:180615302-180616162	GM12878	blood:	n/a	n/a
47	ATF2	chr5:180247668-180248301	GM12878	blood:	n/a	chr5:180248216-180248227
48	ATF2	chr5:180232067-180232523	GM12878	blood:	n/a	n/a
49	ATF2	chr5:180614414-180614959	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF2	chr5:180634492-180634950	H1-hESC	embryonic stem cell:	n/a	n/a

(count:21011 , 50 per page) page: 1 2 3 4 5 6 7 ... 421

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180230959-180231009	PrEC	prostate:	n/a
2	chr5:180646880-180646930	NHDF-neo	bronchial:	n/a
3	chr5:180258557-180258607	AG04450	lung:	fetal
4	chr5:180633667-180633717	AoSMC	blood vessel:	n/a
5	chr5:180670374-180670424	HCPEpiC	choroid plexus:	n/a
6	chr5:180258654-180258704	SK-N-SH_RA	brain:	n/a
7	chr5:180648553-180648603	SAEC	small airway:	n/a
8	chr5:180640477-180640527	PANC-1	pancreas:	n/a
9	chr5:180236652-180236702	AG10803	skin:	n/a
10	chr5:180618506-180618556	HUVEC	blood vessel:	n/a
11	chr5:180238010-180238060	AG10803	skin:	n/a
12	chr5:180396687-180396737	ProgFib	skin:	n/a
13	chr5:180631604-180631654	NHDF-neo	bronchial:	n/a
14	chr5:180397496-180397546	HIPEpiC	eye:	n/a
15	chr5:180647406-180647456	HCF	heart:	n/a
16	chr5:180614858-180614908	HCT-116	colon:	n/a
17	chr5:180671896-180671946	HRCEpiC	kidney:	n/a
18	chr5:180397910-180397960	K562	blood:	n/a
19	chr5:180287685-180287735	SK-N-SH_RA	brain:	n/a
20	chr5:180646754-180646804	HepG2	liver:	n/a
21	chr5:180433174-180433224	NH-A	brain:	n/a
22	chr5:180467233-180467283	AG04450	lung:	fetal
23	chr5:180648553-180648603	AG10803	skin:	n/a
24	chr5:180377617-180377667	GM06990	blood:	n/a
25	chr5:180673122-180673172	ProgFib	skin:	n/a
26	chr5:180623789-180623839	Caco-2	colon:	n/a
27	chr5:180248914-180248964	ProgFib	skin:	n/a
28	chr5:180230959-180231009	PrEC	prostate:	n/a
29	chr5:180646880-180646930	NHDF-neo	bronchial:	n/a
30	chr5:180258557-180258607	AG04450	lung:	fetal
31	chr5:180633667-180633717	AoSMC	blood vessel:	n/a
32	chr5:180670374-180670424	HCPEpiC	choroid plexus:	n/a
33	chr5:180258654-180258704	SK-N-SH_RA	brain:	n/a
34	chr5:180648553-180648603	SAEC	small airway:	n/a
35	chr5:180640477-180640527	PANC-1	pancreas:	n/a
36	chr5:180236652-180236702	AG10803	skin:	n/a
37	chr5:180618506-180618556	HUVEC	blood vessel:	n/a
38	chr5:180238010-180238060	AG10803	skin:	n/a
39	chr5:180396687-180396737	ProgFib	skin:	n/a
40	chr5:180631604-180631654	NHDF-neo	bronchial:	n/a
41	chr5:180397496-180397546	HIPEpiC	eye:	n/a
42	chr5:180647406-180647456	HCF	heart:	n/a
43	chr5:180614858-180614908	HCT-116	colon:	n/a
44	chr5:180671896-180671946	HRCEpiC	kidney:	n/a
45	chr5:180397910-180397960	K562	blood:	n/a
46	chr5:180287685-180287735	SK-N-SH_RA	brain:	n/a
47	chr5:180646754-180646804	HepG2	liver:	n/a
48	chr5:180433174-180433224	NH-A	brain:	n/a
49	chr5:180467233-180467283	AG04450	lung:	fetal
50	chr5:180648553-180648603	AG10803	skin:	n/a

(count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Distal block	Cell Line	Cell type
1	chr5:180445578..180447116-chr5:180456008..180457660,2	K562	blood:
2	chr5:180484920..180486712-chr5:180495853..180498417,3	K562	blood:
3	chr5:180483955..180486622-chr5:180574696..180577538,2	MCF-7	breast:
4	chr5:180292569..180294597-chr5:180585218..180588014,2	K562	blood:
5	chr5:180235621..180237447-chr5:180275097..180276820,2	K562	blood:
6	chr5:180588551..180590342-chr5:180591137..180593935,2	MCF-7	breast:
7	chr5:180293338..180295885-chr5:180297016..180299416,2	MCF-7	breast:
8	chr5:180554193..180556799-chr5:180583640..180586517,2	K562	blood:
9	chr5:180260759..180263292-chr5:180278934..180280506,2	K562	blood:
10	chr5:180228338..180229866-chr5:180648635..180650679,2	MCF-7	breast:
11	chr5:180296063..180296630-chr5:180471964..180472878,2	K562	blood:
12	chr5:180615487..180625285-chr5:180647218..180652530,19	MCF-7	breast:
13	chr5:180228593..180231103-chr5:180268102..180269916,2	MCF-7	breast:
14	chr5:180525348..180527066-chr5:180533064..180535732,2	K562	blood:
15	chr5:180243951..180250734-chr5:180251337..180254880,9	K562	blood:
16	chr5:180452910..180455521-chr5:180467773..180470813,3	K562	blood:
17	chr5:180508430..180509978-chr5:180611376..180614257,2	K562	blood:
18	chr5:180286995..180288791-chr5:180545725..180548508,2	K562	blood:
19	chr5:179049533..179051991-chr5:180649079..180651158,2	MCF-7	breast:
20	chr5:180284217..180286788-chr5:180453751..180456336,2	K562	blood:
21	chr5:180250096..180252900-chr5:180253508..180255247,2	K562	blood:
22	chr5:180257317..180259652-chr5:180282182..180285146,2	MCF-7	breast:
23	chr5:180450003..180453029-chr5:180453704..180456399,3	MCF-7	breast:
24	chr5:180445523..180448380-chr5:180478864..180480862,2	K562	blood:
25	chr5:180286334..180288351-chr5:180598758..180601746,2	MCF-7	breast:
26	chr5:180560198..180561939-chr5:180585868..180587617,2	K562	blood:
27	chr12:53294842..53296821-chr5:180286153..180288679,2	MCF-7	breast:
28	chr5:180253850..180256839-chr5:180278245..180279769,2	MCF-7	breast:
29	chr5:180287214..180289015-chr5:180585051..180587382,2	K562	blood:
30	chr12:52444634..52445313-chr5:180287371..180288294,2	Hela-S3	cervix:
31	chr5:180256272..180261271-chr5:180284313..180290761,15	MCF-7	breast:
32	chr5:180262394..180264164-chr5:180266350..180269420,3	K562	blood:
33	chr5:180295747..180296610-chr5:180586301..180586884,3	MCF-7	breast:
34	chr5:180454599..180456578-chr5:180473135..180474764,2	K562	blood:
35	chr5:180505602..180508537-chr5:180510533..180512339,2	K562	blood:
36	chr5:180227912..180229802-chr5:180527459..180529455,2	K562	blood:
37	chr5:180260152..180261923-chr5:180263994..180266988,2	MCF-7	breast:
38	chr5:180280627..180284269-chr5:180650287..180651897,3	MCF-7	breast:
39	chr5:180228489..180231362-chr5:180631934..180633728,2	MCF-7	breast:
40	chr5:180515138..180516679-chr5:180518430..180520704,2	MCF-7	breast:
41	chr5:180301189..180302712-chr5:180475521..180478007,2	K562	blood:
42	chr5:180560439..180562719-chr5:180586117..180588454,2	K562	blood:
43	chr5:180585081..180587450-chr5:180611382..180614194,2	K562	blood:
44	chr5:180649647..180650242-chr6:57086923..57087520,2	Hela-S3	cervix:
45	chr5:180216327..180219256-chr5:180485099..180486798,2	K562	blood:
46	chr5:180511349..180513757-chr5:180533450..180536035,2	K562	blood:
47	chr5:180326248..180328763-chr5:180336023..180337765,2	MCF-7	breast:
48	chr5:180299531..180301189-chr5:180314779..180317197,2	MCF-7	breast:
49	chr11:61582869..61583880-chr5:180670689..180671484,4	Hela-S3	cervix:
50	chr5:180298383..180301359-chr5:180535092..180536646,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
2	lnc-GNB2L1-1	chr5:180657618-180657685	ENSG00000247049.2
3	lnc-ZFP62-2	chr5:180287528-180287684	NONHSAT105847
4	lnc-TRIM41-2	chr5:180674116-180674386	ENSG00000233937.2
5	lnc-TRIM7-2	chr5:180618046-180618345	NR_108031
6	lnc-BTNL8-6	chr5:180237297-180238375	NONHSAT105819
7	lnc-BTNL8-7	chr5:180230568-180230967	l_3082_chr5:180229467-180230967_thyroid
8	lnc-BTNL8-3	chr5:180257957-180258229	NR_045679
9	lnc-MGAT1-2	chr5:180256956-180257429	NONHSAT105835
10	lnc-ZFP62-2	chr5:180274611-180275082	NONHSAT105846
11	lnc-BTNL3-2	chr5:180482201-180482302	NONHSAT105861
12	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105847
13	lnc-GNB2L1-2	chr5:180674123-180674516	NONHSAT105936
14	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105837
15	lnc-ZFP62-3	chr5:180235836-180236076	NONHSAT105812
16	lnc-TRIM7-2	chr5:180617942-180618345	NONHSAT105872
17	lnc-TRIM41-2	chr5:180673541-180673882	NR_109909
18	lnc-TRIM41-2	chr5:180673525-180673882	ENSG00000233937.2
19	lnc-BTNL8-1	chr5:180296862-180296969	XLOC_004685
20	lnc-MGAT1-2	chr5:180257671-180258618	NONHSAT105835
21	lnc-GNB2L1-1	chr5:180651646-180652143	ENSG00000247049.2
22	lnc-TRIM7-3	chr5:180634462-180634718	XLOC_005115
23	lnc-BTNL8-3	chr5:180256959-180258806	NONHSAT105837
24	lnc-ZFP62-2	chr5:180278988-180279060	NONHSAT105846
25	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105846
26	lnc-MGAT1-2	chr5:180255314-180255379	XLOC_005110
27	lnc-BTNL8-3	chr5:180258736-180258806	NONHSAT105839
28	lnc-ZFP62-3	chr5:180242425-180242567	NONHSAT105809
29	lnc-ZFP62-1	chr5:180261303-180261596	XLOC_005111
30	lnc-GNB2L1-2	chr5:180678472-180679438	NONHSAT105936
31	lnc-TRIM41-2	chr5:180684188-180684587	ENSG00000233937.2
32	lnc-BTNL8-3	chr5:180261312-180262726	NR_045679
33	lnc-MGAT1-2	chr5:180253932-180254267	XLOC_005110
34	lnc-MGAT1-2	chr5:180256937-180257406	XLOC_005110
35	lnc-BTNL8-3	chr5:180256969-180258229	NONHSAT105843
36	lnc-ZFP62-3	chr5:180235838-180236076	NONHSAT105813
37	lnc-TRIM41-3	chr5:180621234-180621486	NONHSAT105875
38	lnc-MGAT1-2	chr5:180257608-180258229	XLOC_005110
39	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
40	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105839
41	lnc-ZFP62-3	chr5:180235841-180236076	NONHSAT105816
42	lnc-TRIM41-3	chr5:180621234-180621486	NONHSAT105877
43	lnc-TRIM41-1	chr5:180626693-180626977	ENSG00000250900.2
44	lnc-TRIM41-3	chr5:180618974-180619140	NONHSAT105875
45	lnc-MGAT1-2	chr5:180258725-180258806	XLOC_005110
46	lnc-BTNL8-3	chr5:180256959-180258595	NONHSAT105841
47	lnc-OR2V1-1	chr5:180472956-180473362	NONHSAT105858
48	lnc-TRIM41-3	chr5:180620342-180620467	NONHSAT105877
49	lnc-BTNL8-3	chr5:180261312-180262726	NR_027183
50	lnc-BTNL3-3	chr5:180338339-180338614	NONHSAT105850

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

Extended variants
information (count: 18264 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:18264 , 50 per page) page: 1 2 3 4 5 6 7 ... 366

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537938761	chr5:180216986-180216987	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs193209529	chr5:180216992-180216993	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs578215476	chr5:180217021-180217022	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs138281117	chr5:180217024-180217025	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs184684170	chr5:180217026-180217027	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs189053494	chr5:180217055-180217056	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs113389789	chr5:180217060-180217061	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs548173102	chr5:180217100-180217101	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs369898464	chr5:180217101-180217102	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546559706	chr5:180217111-180217112	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs371811558	chr5:180217120-180217121	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547658785	chr5:180217201-180217202	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs570616432	chr5:180217224-180217225	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs375180777	chr5:180217242-180217243	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs550029807	chr5:180217294-180217295	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs149611427	chr5:180217326-180217327	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs535860462	chr5:180217332-180217333	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555293041	chr5:180217335-180217336	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs572251333	chr5:180217345-180217346	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs369710804	chr5:180217349-180217350	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs373300696	chr5:180217412-180217413	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs534781121	chr5:180217446-180217447	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs191862656	chr5:180217486-180217487	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs149166141	chr5:180217492-180217493	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs369055462	chr5:180217497-180217498	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs114494357	chr5:180217618-180217619	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs14995	chr5:180217619-180217620	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs9387	chr5:180217626-180217627	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs11544559	chr5:180217652-180217653	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563431103	chr5:180217661-180217662	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs574211297	chr5:180217701-180217702	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs371631272	chr5:180217713-180217714	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs541850239	chr5:180217730-180217731	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs573131122	chr5:180217733-180217734	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs561664565	chr5:180217749-180217750	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs527424111	chr5:180217776-180217777	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs116143418	chr5:180217808-180217809	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376578856	chr5:180217847-180217848	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs533176212	chr5:180217873-180217874	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs1064247	chr5:180217887-180217888	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs551554604	chr5:180217906-180217907	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs571397668	chr5:180217985-180217986	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs72549459	chr5:180218117-180218118	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs201354617	chr5:180218124-180218125	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs184095855	chr5:180218127-180218128	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs528994573	chr5:180218147-180218148	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs529145679	chr5:180218169-180218170	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs76550114	chr5:180218202-180218203	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs11544560	chr5:180218219-180218220	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs565719201	chr5:180218234-180218235	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	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:14358 , 50 per page) page: 1 2 3 4 5 6 7 ... 288

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180210000-180217800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:180210200-180217400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:180211200-180217400	Weak transcription	K562	blood
4	chr5:180212200-180217000	Enhancers	Pancreas	Pancrea
5	chr5:180212400-180225400	Strong transcription	Thymus	Thymus
6	chr5:180212800-180228600	Weak transcription	Fetal Brain Male	brain
7	chr5:180213000-180217000	Weak transcription	HepG2	liver
8	chr5:180213000-180217600	Weak transcription	Hela-S3	cervix
9	chr5:180213800-180218000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:180214000-180217000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:180214000-180217600	Weak transcription	Small Intestine	intestine
12	chr5:180214000-180219200	Genic enhancers	Placenta	Placenta
13	chr5:180214000-180221000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:180214200-180217000	Weak transcription	Brain Substantia Nigra	brain
15	chr5:180214200-180219000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:180214400-180217000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:180214400-180217000	Weak transcription	Aorta	Aorta
18	chr5:180214400-180220800	Strong transcription	Fetal Intestine Small	intestine
19	chr5:180214400-180222600	Weak transcription	Right Atrium	heart
20	chr5:180214400-180222800	Weak transcription	Stomach Mucosa	stomach
21	chr5:180214400-180223000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:180214400-180224400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:180214600-180217200	Genic enhancers	Fetal Muscle Leg	muscle
24	chr5:180214600-180217600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:180214600-180217600	Weak transcription	NHEK	skin
26	chr5:180214600-180221000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:180214600-180223000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:180214600-180223400	Strong transcription	Fetal Thymus	thymus
29	chr5:180214600-180224600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:180214600-180227000	Weak transcription	Fetal Kidney	kidney
31	chr5:180214800-180217000	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:180214800-180220000	Strong transcription	GM12878-XiMat	blood
33	chr5:180214800-180220400	Genic enhancers	Adipose Nuclei	Adipose
34	chr5:180214800-180220600	Strong transcription	Brain Germinal Matrix	brain
35	chr5:180214800-180220600	Strong transcription	Dnd41	blood
36	chr5:180214800-180220800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:180214800-180222000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr5:180214800-180226400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr5:180215000-180217000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:180215000-180217400	Weak transcription	Brain Angular Gyrus	brain
41	chr5:180215000-180217400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:180215000-180218400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:180215000-180218800	Strong transcription	Fetal Intestine Large	intestine
44	chr5:180215000-180219600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:180215000-180220000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr5:180215000-180220200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:180215000-180220400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:180215000-180220600	Strong transcription	Primary T cells from cord blood	blood
49	chr5:180215000-180220600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:180215000-180220800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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