Variant report

Variant	rs3125632
Chromosome Location	chr1:47779951-47779952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:419)
CpG islands
(count:122)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr1:47779038-47780019	PANC-1	pancreas:	n/a	n/a
2	ATF2	chr1:47779659-47780570	GM12878	blood:	n/a	n/a
3	ZBTB33	chr1:47779582-47780069	K562	blood:	n/a	chr1:47779880-47779887 chr1:47779808-47779818
4	POLR2A	chr1:47779035-47780602	K562	blood:	n/a	n/a
5	GATA2	chr1:47779655-47780566	SH-SY5Y	brain:	n/a	n/a
6	POLR2A	chr1:47779084-47780617	K562	blood:	n/a	n/a
7	PBX3	chr1:47779560-47780398	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr1:47779754-47779996	GM12878	blood:	n/a	n/a
9	MTA3	chr1:47779114-47780650	GM12878	blood:	n/a	n/a
10	TBP	chr1:47779012-47780403	Hela-S3	cervix:	n/a	n/a
11	E2F6	chr1:47779610-47780069	K562	blood:	n/a	chr1:47779808-47779819 chr1:47779820-47779831 chr1:47779950-47779959
12	FOS	chr1:47779819-47780285	MCF10A-Er-Src	breast:	n/a	chr1:47779952-47779961
13	GABPA	chr1:47779528-47780457	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr1:47779143-47780610	K562	blood:	n/a	n/a
15	CTCF	chr1:47779840-47779990	HEK293	kidney:	n/a	n/a
16	RCOR1	chr1:47779506-47780464	GM12878	blood:	n/a	n/a
17	STAT1	chr1:47779233-47780255	GM12878	blood:	n/a	n/a
18	HA-E2F1	chr1:47779063-47780670	MCF-7	breast:	n/a	chr1:47779807-47779818 chr1:47779950-47779959 chr1:47779819-47779830
19	CHD1	chr1:47778962-47780483	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:47779053-47780464	HUVEC	blood vessel:	n/a	n/a
21	GABPA	chr1:47779648-47780278	Hela-S3	cervix:	n/a	n/a
22	CREB1	chr1:47779508-47780618	GM12878	blood:	n/a	n/a
23	MAFF	chr1:47779220-47780344	K562	blood:	n/a	n/a
24	BRCA1	chr1:47779273-47780463	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAZ	chr1:47779156-47780370	K562	blood:	n/a	n/a
26	NFYB	chr1:47779319-47780310	Hela-S3	cervix:	n/a	chr1:47779945-47779960 chr1:47779948-47779963 chr1:47779948-47779963 chr1:47779948-47779962 chr1:47779948-47779961
27	RUNX3	chr1:47779206-47780627	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:47779241-47780540	GM12878	blood:	n/a	n/a
29	EP300	chr1:47779137-47780469	GM12878	blood:	n/a	chr1:47780312-47780326 chr1:47780159-47780166 chr1:47779653-47779669
30	GTF2F1	chr1:47779548-47780459	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr1:47779354-47780405	ECC-1	luminal epithelium:	n/a	n/a
32	TAF1	chr1:47779943-47780258	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:47779160-47780667	GM18505	blood:	n/a	n/a
34	POLR2A	chr1:47779030-47780455	PFSK-1	brain:	n/a	n/a
35	GABPA	chr1:47779599-47780448	A549	lung:	n/a	n/a
36	RCOR1	chr1:47779121-47780092	K562	blood:	n/a	n/a
37	GABPA	chr1:47779537-47780361	MCF-7	breast:	n/a	n/a
38	POLR2A	chr1:47779184-47780550	PBDE	blood:	n/a	n/a
39	MYBL2	chr1:47779060-47780442	HepG2	liver:	n/a	n/a
40	SP2	chr1:47779632-47780154	K562	blood:	n/a	chr1:47779870-47779893
41	ELK1	chr1:47779224-47780411	GM12878	blood:	n/a	chr1:47780158-47780167 chr1:47780158-47780167
42	CREB1	chr1:47779617-47780322	ECC-1	luminal epithelium:	n/a	n/a
43	CREB1	chr1:47779031-47780435	HepG2	liver:	n/a	n/a
44	MYC	chr1:47779682-47779977	MCF-7	breast:	n/a	n/a
45	MYC	chr1:47779733-47780057	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr1:47779078-47780391	PFSK-1	brain:	n/a	n/a
47	SP1	chr1:47779294-47780247	K562	blood:	n/a	chr1:47779786-47779795 chr1:47780085-47780094 chr1:47779949-47779970 chr1:47779890-47779904 chr1:47779785-47779797 chr1:47779785-47779797 chr1:47780084-47780094 chr1:47780085-47780094 chr1:47780084-47780093
48	FOXM1	chr1:47779233-47780346	GM12878	blood:	n/a	n/a
49	TBP	chr1:47779087-47780329	HepG2	liver:	n/a	n/a
50	MAFK	chr1:47779193-47780432	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47779932-47779982	GM19239	blood:	n/a
2	chr1:47779921-47779971	HRCEpiC	kidney:	n/a
3	chr1:47779921-47779971	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:47779921-47779971	BJ	skin:	n/a
5	chr1:47779921-47779971	ovcar-3	ovarian:	n/a
6	chr1:47779921-47779971	PANC-1	pancreas:	n/a
7	chr1:47779932-47779982	HCT-116	colon:	n/a
8	chr1:47779921-47779971	MCF-7	breast:	n/a
9	chr1:47779921-47779971	HNPCEpiC	eye:	n/a
10	chr1:47779932-47779982	HPAEpiC	pulmonary alveolar:	n/a
11	chr1:47779932-47779982	GM12892	blood:	n/a
12	chr1:47779932-47779982	K562	blood:	n/a
13	chr1:47779921-47779971	T-47D	breast:	n/a
14	chr1:47779932-47779982	PANC-1	pancreas:	n/a
15	chr1:47779921-47779971	SAEC	small airway:	n/a
16	chr1:47779921-47779971	NHBE	bronchial:	n/a
17	chr1:47779921-47779971	GM19239	blood:	n/a
18	chr1:47779932-47779982	HepG2	liver:	n/a
19	chr1:47779932-47779982	PFSK-1	brain:	n/a
20	chr1:47779932-47779982	HL-60	blood:	n/a
21	chr1:47779932-47779982	RPTEC	kidney:	n/a
22	chr1:47779921-47779971	ProgFib	skin:	n/a
23	chr1:47779921-47779971	Jurkat	blood:	n/a
24	chr1:47779932-47779982	NB4	blood:	n/a
25	chr1:47779921-47779971	HCPEpiC	choroid plexus:	n/a
26	chr1:47779921-47779971	HEK293	kidney:	embryo
27	chr1:47779921-47779971	HMEC	breast:	n/a
28	chr1:47779932-47779982	AG04449	skin:	fetal
29	chr1:47779921-47779971	AG04450	lung:	fetal
30	chr1:47779921-47779971	Hela-S3	cervix:	n/a
31	chr1:47779932-47779982	HCPEpiC	choroid plexus:	n/a
32	chr1:47779932-47779982	HEK293	kidney:	embryo
33	chr1:47779921-47779971	GM12891	blood:	n/a
34	chr1:47779921-47779971	AG09319	gingival:	n/a
35	chr1:47779932-47779982	Caco-2	colon:	n/a
36	chr1:47779932-47779982	HUVEC	blood vessel:	n/a
37	chr1:47779921-47779971	MCF10A-Er-Src	breast:	n/a
38	chr1:47779932-47779982	GM12878	blood:	n/a
39	chr1:47779932-47779982	CMK	blood:	n/a
40	chr1:47779932-47779982	HAEpiC	amniotic membrane:	n/a
41	chr1:47779932-47779982	Hepatocyte	liver:	n/a
42	chr1:47779932-47779982	MCF-7	breast:	n/a
43	chr1:47779932-47779982	SAEC	small airway:	n/a
44	chr1:47779921-47779971	BE2_C	brain:	n/a
45	chr1:47779921-47779971	AG10803	skin:	n/a
46	chr1:47779932-47779982	SKMC	muscle:	n/a
47	chr1:47779932-47779982	NHBE	bronchial:	n/a
48	chr1:47779932-47779982	GM12891	blood:	n/a
49	chr1:47779932-47779982	AG04450	lung:	fetal
50	chr1:47779921-47779971	Hepatocyte	liver:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47779687..47780367-chrX:49040972..49041571,2	Hela-S3	cervix:
2	chr1:47768301..47773311-chr1:47776226..47780764,7	K562	blood:
3	chr1:47696558..47698524-chr1:47778724..47781604,2	K562	blood:
4	chr1:47779302..47780036-chr14:75745216..75745967,2	Hela-S3	cervix:
5	chr1:47695872..47699054-chr1:47778639..47781604,5	K562	blood:
6	chr1:47694063..47695820-chr1:47778325..47781365,3	K562	blood:
7	chr1:47779429..47780211-chr5:149379888..149380773,2	HCT-116	colon:
8	chr1:47779361..47779964-chr17:27055222..27055829,2	Hela-S3	cervix:
9	chr1:47779338..47780187-chr5:72143632..72144437,2	Hela-S3	cervix:
10	chr1:47779382..47780267-chr17:64298120..64298939,2	Hela-S3	cervix:
11	chr1:47772551..47781833-chr1:47797933..47806586,42	K562	blood:
12	chr1:47778595..47781681-chr1:47798356..47800996,6	MCF-7	breast:

No data

Variant related genes	Relation type
STIL	TF binding region
STIL	CpG island
ENSG00000012211	Chromatin interaction
ENSG00000123473	Chromatin interaction
ENSG00000160602	Chromatin interaction
ENSG00000083312	Chromatin interaction
ENSG00000164296	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000113716	Chromatin interaction
ENSG00000162368	Chromatin interaction
ENSG00000154229	Chromatin interaction
ENSG00000162367	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10157883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1028646	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1028647	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10789507	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs10890475	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10890476	0.89[ASN][1000 genomes]
rs10890478	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11211504	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11211508	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11211510	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11211511	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11211513	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11211517	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11211520	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11211524	0.86[CHB][hapmap]
rs11578038	0.88[ASN][1000 genomes]
rs11582877	0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12024163	0.87[ASN][1000 genomes]
rs12039726	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12040451	0.89[ASN][1000 genomes]
rs12042624	0.89[ASN][1000 genomes]
rs12047319	0.89[ASN][1000 genomes]
rs12118514	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12121831	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12125261	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12126139	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12127982	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12132928	0.84[AMR][1000 genomes]
rs12138072	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12141060	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12409549	0.88[ASN][1000 genomes]
rs12562561	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12730819	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12732050	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12732410	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12743877	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17452995	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2246707	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2472725	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2472730	0.85[ASN][1000 genomes]
rs2472731	0.84[ASN][1000 genomes]
rs2494247	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2622901	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2622905	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2622907	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2622908	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2622925	0.93[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2742081	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2742099	0.85[ASN][1000 genomes]
rs2742103	0.88[ASN][1000 genomes]
rs2742104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2758735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2758736	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2758737	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2758744	0.88[ASN][1000 genomes]
rs2820987	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2820988	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2820989	0.93[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2821087	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2821088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2821089	0.87[ASN][1000 genomes]
rs2821090	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2821093	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2821094	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2821096	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2897237	0.85[ASN][1000 genomes]
rs3088062	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs3122607	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3122610	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3122611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3122615	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3122616	0.89[ASN][1000 genomes]
rs3122619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3122620	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3122623	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3125624	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3125625	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3125628	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3125630	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3125631	0.89[ASN][1000 genomes]
rs3125633	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3125635	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3125636	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs3125638	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3125639	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3125640	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3125641	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3125644	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs34400183	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34952704	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35711761	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35774681	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35880845	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3925058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4147192	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4463720	0.80[ASN][1000 genomes]
rs4492666	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4926824	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4926836	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs55737131	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56987466	0.89[ASN][1000 genomes]
rs58688029	0.88[ASN][1000 genomes]
rs59492977	0.88[ASN][1000 genomes]
rs61782706	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61782712	0.88[ASN][1000 genomes]
rs61782733	0.85[ASN][1000 genomes]
rs6588348	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6588365	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6659946	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6660321	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs6671254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6681868	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6689687	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6692734	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6697248	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6703956	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6795	0.86[CEU][hapmap]
rs71645861	0.82[EUR][1000 genomes]
rs7511699	0.89[ASN][1000 genomes]
rs7525650	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7532148	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7541748	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7543016	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7545281	0.86[ASN][1000 genomes]
rs9436394	0.89[ASN][1000 genomes]
rs9436429	0.89[ASN][1000 genomes]
rs9436430	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9436749	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9436838	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9436882	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390574	chr1:47778981-47803091	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3125632	CMPK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47778000-47780400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:47778000-47780400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:47778000-47780600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:47778000-47781200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:47778200-47780600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:47778200-47780600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:47778200-47780600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:47778200-47780600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:47778200-47780600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:47778200-47780600	Active TSS	A549	lung
11	chr1:47778200-47780600	Active TSS	GM12878-XiMat	blood
12	chr1:47778200-47780600	Active TSS	NH-A	brain
13	chr1:47778200-47780600	Active TSS	NHDF-Ad	bronchial
14	chr1:47778200-47780800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:47778400-47780600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:47778400-47780600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:47778400-47780600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:47778400-47780600	Active TSS	Fetal Kidney	kidney
19	chr1:47778400-47780800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:47778400-47780800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:47778400-47780800	Active TSS	Fetal Intestine Large	intestine
22	chr1:47778400-47780800	Active TSS	Fetal Intestine Small	intestine
23	chr1:47778400-47780800	Active TSS	Thymus	Thymus
24	chr1:47778400-47780800	Active TSS	HMEC	breast
25	chr1:47778400-47781200	Active TSS	Hela-S3	cervix
26	chr1:47778600-47780400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:47778600-47780600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:47778600-47780600	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr1:47778600-47780600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:47778600-47780600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:47778600-47780600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:47778600-47780600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:47778600-47780600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:47778600-47780600	Active TSS	Colonic Mucosa	Colon
35	chr1:47778600-47780600	Active TSS	HSMM	muscle
36	chr1:47778600-47780800	Active TSS	K562	blood
37	chr1:47778600-47780800	Active TSS	NHEK	skin
38	chr1:47778800-47780200	Active TSS	Dnd41	blood
39	chr1:47778800-47780400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr1:47778800-47780400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:47778800-47780400	Active TSS	HUVEC	blood vessel
42	chr1:47778800-47780600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:47778800-47780600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:47778800-47780600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:47778800-47780600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:47778800-47780600	Active TSS	Muscle Satellite Cultured Cells	--
47	chr1:47778800-47780600	Active TSS	NHLF	lung
48	chr1:47778800-47780600	Active TSS	Osteobl	bone
49	chr1:47779000-47780400	Active TSS	Fetal Muscle Trunk	muscle
50	chr1:47779000-47780600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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