Variant report

Variant	rs67817333
Chromosome Location	chr5:43315049-43315050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr5:43314493-43315133	Hela-S3	cervix:	n/a	chr5:43314916-43314926 chr5:43314917-43314924 chr5:43314917-43314926
2	ATF3	chr5:43314708-43315200	A549	lung:	n/a	n/a
3	FOSL2	chr5:43314710-43315152	A549	lung:	n/a	chr5:43314916-43314926 chr5:43314917-43314924 chr5:43314917-43314926
4	SIX5	chr5:43314794-43315711	A549	lung:	n/a	n/a
5	E2F4	chr5:43314806-43315951	MCF10A-Er-Src	breast:	n/a	n/a
6	GABPA	chr5:43314739-43315343	A549	lung:	n/a	n/a
7	BCL3	chr5:43314374-43315273	A549	lung:	n/a	n/a
8	NR3C1	chr5:43314822-43315308	A549	lung:	n/a	n/a
9	GATA3	chr5:43313153-43316032	A549	lung:	n/a	n/a
10	TCF12	chr5:43314468-43315927	A549	lung:	n/a	n/a
11	NR3C1	chr5:43314786-43315288	A549	lung:	n/a	n/a
12	JUND	chr5:43314722-43315155	Hela-S3	cervix:	n/a	chr5:43314916-43314926 chr5:43314917-43314924 chr5:43314917-43314926
13	MAX	chr5:43312803-43315813	A549	lung:	n/a	n/a
14	CEBPB	chr5:43314768-43315822	Hela-S3	cervix:	n/a	n/a
15	SP1	chr5:43313089-43315859	A549	lung:	n/a	chr5:43313401-43313413 chr5:43313639-43313651 chr5:43313719-43313730 chr5:43313641-43313650 chr5:43313734-43313743 chr5:43313581-43313595 chr5:43313732-43313743 chr5:43313639-43313651 chr5:43314998-43315008 chr5:43314275-43314288 chr5:43313584-43313596
16	ATF3	chr5:43314654-43315201	A549	lung:	n/a	n/a
17	NR3C1	chr5:43314761-43315441	A549	lung:	n/a	n/a
18	ZBTB33	chr5:43314709-43315209	A549	lung:	n/a	n/a
19	CEBPB	chr5:43314647-43315828	A549	lung:	n/a	n/a
20	FOXA2	chr5:43314770-43315366	A549	lung:	n/a	n/a
21	TEAD4	chr5:43314680-43315252	A549	lung:	n/a	n/a
22	CEBPB	chr5:43314723-43315362	A549	lung:	n/a	n/a
23	MAFK	chr5:43314814-43315095	Hela-S3	cervix:	n/a	n/a
24	BCL3	chr5:43314670-43315369	A549	lung:	n/a	n/a
25	TBP	chr5:43314884-43315069	Hela-S3	cervix:	n/a	n/a
26	FOS	chr5:43314734-43316004	MCF10A-Er-Src	breast:	n/a	chr5:43314916-43314926 chr5:43315596-43315607 chr5:43314917-43314924 chr5:43314917-43314926
27	MAX	chr5:43314704-43315799	A549	lung:	n/a	n/a
28	TCF7L2	chr5:43314858-43315207	Hela-S3	cervix:	n/a	n/a
29	REST	chr5:43314673-43315282	A549	lung:	n/a	n/a
30	TEAD4	chr5:43314623-43315352	A549	lung:	n/a	n/a
31	FOSL2	chr5:43313366-43315985	A549	lung:	n/a	chr5:43313584-43313593 chr5:43314916-43314926 chr5:43313642-43313651 chr5:43314917-43314924 chr5:43314917-43314926
32	RFX5	chr5:43314727-43315189	Hela-S3	cervix:	n/a	n/a
33	EP300	chr5:43314788-43315191	Hela-S3	cervix:	n/a	chr5:43314917-43314926
34	FOS	chr5:43314890-43316064	MCF10A-Er-Src	breast:	n/a	chr5:43314916-43314926 chr5:43315596-43315607 chr5:43314917-43314924 chr5:43314917-43314926
35	GATA3	chr5:43314624-43315303	A549	lung:	n/a	n/a
36	EP300	chr5:43314356-43315387	A549	lung:	n/a	chr5:43314917-43314926
37	FOS	chr5:43314751-43315167	Hela-S3	cervix:	n/a	chr5:43314916-43314926 chr5:43314917-43314924 chr5:43314917-43314926
38	FOS	chr5:43314775-43316049	MCF10A-Er-Src	breast:	n/a	chr5:43314916-43314926 chr5:43315596-43315607 chr5:43314917-43314924 chr5:43314917-43314926
39	CEBPB	chr5:43314300-43315770	A549	lung:	n/a	n/a
40	SP1	chr5:43313147-43315875	A549	lung:	n/a	chr5:43313401-43313413 chr5:43313639-43313651 chr5:43313719-43313730 chr5:43313641-43313650 chr5:43313734-43313743 chr5:43313581-43313595 chr5:43313732-43313743 chr5:43313639-43313651 chr5:43314998-43315008 chr5:43314275-43314288 chr5:43313584-43313596
41	RCOR1	chr5:43314835-43315180	Hela-S3	cervix:	n/a	n/a
42	EP300	chr5:43313590-43315960	A549	lung:	n/a	chr5:43314917-43314926
43	ZKSCAN1	chr5:43314894-43315146	Hela-S3	cervix:	n/a	n/a
44	SIN3AK20	chr5:43314756-43315265	A549	lung:	n/a	n/a
45	TCF12	chr5:43314759-43315279	A549	lung:	n/a	n/a
46	NR3C1	chr5:43314774-43315348	A549	lung:	n/a	n/a
47	BRCA1	chr5:43314865-43315129	Hela-S3	cervix:	n/a	n/a
48	JUND	chr5:43314755-43315261	A549	lung:	n/a	chr5:43314916-43314926 chr5:43314917-43314924 chr5:43314917-43314926

No.	Distal block	Cell Line	Cell type
1	chr5:43120068..43123427-chr5:43312084..43315058,4	MCF-7	breast:
2	chr5:43314912..43317886-chr5:43482528..43484507,2	K562	blood:
3	chr5:43311997..43315552-chr5:43481611..43486076,8	MCF-7	breast:
4	chr5:43312956..43314498-chr5:43314629..43316286,2	MCF-7	breast:
5	chr5:43230831..43233425-chr5:43313778..43315443,2	MCF-7	breast:
6	chr5:43119756..43121419-chr5:43314407..43316423,2	K562	blood:
7	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:

Variant related genes	Relation type
HMGCS1	TF binding region
ENSG00000112972	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000247763	Chromatin interaction

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10039048	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10039617	0.91[EUR][1000 genomes]
rs10512825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512827	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10512828	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10805672	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805673	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805674	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805675	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10941620	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10941621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941623	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10941628	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10941630	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941631	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10941632	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11738086	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11739009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739665	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740128	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11741246	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11741797	0.86[ASN][1000 genomes]
rs11742171	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11742712	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743622	0.88[EUR][1000 genomes]
rs11743633	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11746629	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11747105	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11747834	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11950040	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11950448	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11951515	0.86[ASN][1000 genomes]
rs11951584	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11956635	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11956936	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11956988	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11960415	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12109933	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12189016	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12189447	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12513864	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12514393	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514399	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515072	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516435	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12517362	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12518032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518127	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12519554	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12520012	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520895	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12522178	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187876	0.85[EUR][1000 genomes]
rs13659	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545753	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548097	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564196	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1564197	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1564198	0.88[EUR][1000 genomes]
rs2126947	0.84[EUR][1000 genomes]
rs2126948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126949	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169781	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2330150	0.83[EUR][1000 genomes]
rs2330242	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35231094	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35239179	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733768	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3733769	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756416	0.86[ASN][1000 genomes]
rs4050485	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4288122	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4320264	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4373285	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4395639	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4443425	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4443426	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4574553	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4591755	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4866737	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866741	0.84[EUR][1000 genomes]
rs4866813	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866820	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4866821	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4866822	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4866824	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4866825	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4866826	0.87[EUR][1000 genomes]
rs55634155	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55647314	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55759097	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55759722	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55794239	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55800451	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55939301	0.82[ASN][1000 genomes]
rs55992392	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56023994	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56029402	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56071328	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56114604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56185290	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56206275	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57066570	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57392430	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57401732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58358642	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58679159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58966636	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59078439	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59625262	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59814709	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60445501	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60826019	0.81[ASN][1000 genomes]
rs61627503	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6451684	0.91[EUR][1000 genomes]
rs66585077	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66691321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66914803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67415672	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67497876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67620667	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67651757	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860073	0.81[ASN][1000 genomes]
rs6863246	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6863360	0.91[EUR][1000 genomes]
rs6867954	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6886499	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6887351	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6895805	0.82[EUR][1000 genomes]
rs6898398	0.90[EUR][1000 genomes]
rs7380703	0.95[ASN][1000 genomes]
rs7445066	0.85[EUR][1000 genomes]
rs7701391	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7704588	0.86[EUR][1000 genomes]
rs7706402	0.85[ASN][1000 genomes]
rs7708779	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7714027	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7714919	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7716091	0.88[EUR][1000 genomes]
rs7720165	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720681	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7722781	0.88[EUR][1000 genomes]
rs7727047	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7734293	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs922439	0.94[ASN][1000 genomes]
rs9292871	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9292874	0.87[EUR][1000 genomes]
rs9790987	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43314200-43315200	Enhancers	HepG2	liver
2	chr5:43314200-43315400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:43314200-43315800	Flanking Active TSS	A549	lung
4	chr5:43314200-43316200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:43314200-43316200	Enhancers	Hela-S3	cervix
6	chr5:43314200-43317000	Enhancers	HMEC	breast
7	chr5:43314400-43315200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:43314400-43315200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr5:43314400-43315200	Enhancers	NH-A	brain
10	chr5:43314400-43315200	Enhancers	NHDF-Ad	bronchial
11	chr5:43314400-43315600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:43314400-43315600	Enhancers	NHLF	lung
13	chr5:43314400-43316400	Enhancers	NHEK	skin
14	chr5:43314400-43316600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:43314400-43319200	Weak transcription	Fetal Intestine Large	intestine
16	chr5:43314600-43315200	Enhancers	Fetal Brain Female	brain
17	chr5:43314600-43315200	Enhancers	Dnd41	blood
18	chr5:43314600-43315600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:43314600-43315600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:43314600-43315600	Enhancers	Liver	Liver
21	chr5:43314600-43315600	Enhancers	K562	blood
22	chr5:43314600-43315800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:43314600-43315800	Enhancers	HSMMtube	muscle
24	chr5:43314600-43316000	Weak transcription	Stomach Mucosa	stomach
25	chr5:43314600-43316400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:43314600-43316400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:43314600-43316400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:43314800-43315400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:43314800-43315600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:43314800-43316000	ZNF genes & repeats	GM12878-XiMat	blood

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