Variant report

Variant	rs3812825
Chromosome Location	chr12:50616346-50616347
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	CTCF	chr12:50616340-50616490	HRPEpiC	eye:	n/a	n/a
2	WRNIP1	chr12:50616021-50616476	GM12878	blood:	n/a	n/a
3	CBX3	chr12:50615907-50616673	K562	blood:	n/a	n/a
4	CTCF	chr12:50616280-50616430	K562	blood:	n/a	n/a
5	CTCF	chr12:50616340-50616490	HMEC	breast:	n/a	n/a
6	IKZF1	chr12:50615858-50616629	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:50614072-50616889	U87	brain:	n/a	n/a
8	ELK1	chr12:50615893-50616796	GM12878	blood:	n/a	n/a
9	MAFK	chr12:50615004-50616606	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr12:50616320-50616470	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr12:50616260-50616410	WERI-Rb-1	eye:	n/a	n/a
12	MYC	chr12:50615934-50616604	Hela-S3	cervix:	n/a	chr12:50616409-50616419
13	MAX	chr12:50616034-50616697	HCT-116	colon:	n/a	chr12:50616409-50616419
14	POLR2A	chr12:50616017-50616715	SK-N-MC	brain:	n/a	n/a
15	MYC	chr12:50614912-50616616	MCF10A-Er-Src	breast:	n/a	chr12:50616409-50616419
16	SPI1	chr12:50616310-50616533	K562	blood:	n/a	chr12:50616485-50616494
17	SRF	chr12:50616338-50616626	K562	blood:	n/a	chr12:50616506-50616515 chr12:50616505-50616516 chr12:50616503-50616518 chr12:50616502-50616519 chr12:50616506-50616517 chr12:50616506-50616520 chr12:50616502-50616520 chr12:50616504-50616519 chr12:50616501-50616515 chr12:50616502-50616516 chr12:50616504-50616517 chr12:50616505-50616519 chr12:50616501-50616519 chr12:50616504-50616515 chr12:50616502-50616520
18	POLR2A	chr12:50614931-50616643	ProgFib	skin:	n/a	n/a
19	USF2	chr12:50616299-50616517	Hela-S3	cervix:	n/a	n/a
20	YY1	chr12:50616276-50616488	K562	blood:	n/a	n/a
21	REST	chr12:50616213-50616566	K562	blood:	n/a	n/a
22	POLR2A	chr12:50614161-50616815	GM12878	blood:	n/a	n/a
23	MAX	chr12:50615795-50616562	NB4	blood:	n/a	chr12:50616409-50616419
24	NR2F2	chr12:50615668-50616593	K562	blood:	n/a	n/a
25	POLR2A	chr12:50616253-50616498	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:50614527-50616688	U87	brain:	n/a	n/a
27	POLR2A	chr12:50615931-50616526	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr12:50616115-50616531	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr12:50616300-50616450	Caco-2	colon:	n/a	n/a
30	SIN3AK20	chr12:50616045-50616598	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:50615002-50616549	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr12:50615024-50616642	PANC-1	pancreas:	n/a	n/a
33	CTCF	chr12:50616300-50616450	HCFaa	heart:	n/a	n/a
34	CTCF	chr12:50616300-50616450	Hela-S3	cervix:	n/a	n/a
35	SIN3AK20	chr12:50616243-50616490	SK-N-SH	brain:	n/a	n/a
36	KAP1	chr12:50614884-50616593	HEK293	kidney:	n/a	n/a
37	CTCF	chr12:50616340-50616490	HCPEpiC	choroid plexus:	n/a	n/a
38	MAFK	chr12:50616254-50616689	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr12:50616293-50616522	K562	blood:	n/a	chr12:50616409-50616419
40	REST	chr12:50616269-50616519	SK-N-SH	brain:	n/a	n/a
41	SRF	chr12:50616123-50616904	ECC-1	luminal epithelium:	n/a	chr12:50616506-50616515 chr12:50616505-50616516 chr12:50616503-50616518 chr12:50616502-50616519 chr12:50616506-50616517 chr12:50616506-50616520 chr12:50616502-50616520 chr12:50616504-50616519 chr12:50616501-50616515 chr12:50616502-50616516 chr12:50616504-50616517 chr12:50616505-50616519 chr12:50616501-50616519 chr12:50616504-50616515 chr12:50616502-50616520
42	CTCF	chr12:50616280-50616430	NB4	blood:	n/a	n/a
43	STAT3	chr12:50616308-50616663	MCF10A-Er-Src	breast:	n/a	n/a
44	CEBPB	chr12:50616327-50616508	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr12:50615886-50616747	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:50616340-50616490	NHLF	lung:	n/a	n/a
47	POLR2A	chr12:50616130-50616474	GM12878	blood:	n/a	n/a
48	RCOR1	chr12:50616072-50616745	K562	blood:	n/a	n/a
49	ARID3A	chr12:50616177-50616814	K562	blood:	n/a	n/a
50	CTCF	chr12:50616320-50616470	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50614024..50616982-chr12:50677879..50679870,2	K562	blood:
2	chr12:50612057..50616588-chr12:50616735..50619930,4	MCF-7	breast:
3	chr12:50615125..50617540-chr12:50694160..50696822,2	K562	blood:
4	chr12:50589265..50591468-chr12:50615588..50617139,2	K562	blood:
5	chr12:50594550..50596135-chr12:50613800..50616360,2	K562	blood:
6	chr12:50616040..50619378-chr12:50692755..50696758,3	K562	blood:
7	chr12:50611760..50615008-chr12:50615147..50618243,5	MCF-7	breast:
8	chr12:50614841..50617436-chr12:50793138..50795396,3	K562	blood:
9	chr12:50614322..50618314-chr12:50675052..50679891,5	K562	blood:
10	chr12:50504135..50506264-chr12:50615508..50617145,2	K562	blood:
11	chr12:50614841..50617436-chr12:50793138..50796219,5	K562	blood:
12	chr12:50505504..50507655-chr12:50614479..50616710,2	MCF-7	breast:
13	chr12:50505161..50506751-chr12:50614441..50616699,2	K562	blood:
14	chr12:50614825..50617496-chr12:50643116..50645944,3	K562	blood:
15	chr12:50611193..50613806-chr12:50616062..50618522,3	K562	blood:

Variant related genes	Relation type
LIMA1	TF binding region
ENSG00000257531	TF binding region
ENSG00000257256	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000203433	Chromatin interaction
ENSG00000161813	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000272368	Chromatin interaction
ENSG00000257531	Chromatin interaction
ENSG00000203428	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10506292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10783344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10783349	0.84[EUR][1000 genomes]
rs10783350	0.82[EUR][1000 genomes]
rs10783353	0.81[ASN][1000 genomes]
rs10876013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876014	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876015	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876016	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876017	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876018	0.82[EUR][1000 genomes]
rs10876023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10876024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10876028	0.82[ASN][1000 genomes]
rs11169314	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169315	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169317	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169319	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169331	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169339	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169345	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169347	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169349	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169359	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169367	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169369	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169370	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169371	0.84[EUR][1000 genomes]
rs11169373	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169374	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169375	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169376	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169377	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169379	0.82[EUR][1000 genomes]
rs11169386	0.81[EUR][1000 genomes]
rs11169390	0.83[ASN][1000 genomes]
rs11169391	0.82[ASN][1000 genomes]
rs11169395	0.81[ASN][1000 genomes]
rs11833608	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs11836169	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11838347	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12299758	0.84[ASN][1000 genomes]
rs12303082	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.83[ASN][1000 genomes]
rs12312177	0.81[ASN][1000 genomes]
rs12367872	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.88[LWK][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap]
rs12422417	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.98[TSI][hapmap];0.83[ASN][1000 genomes]
rs12424691	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.93[LWK][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12424713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12424876	0.81[ASN][1000 genomes]
rs12425229	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12426444	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12811291	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814094	0.83[ASN][1000 genomes]
rs12821454	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12823506	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12828340	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12832940	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1362983	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17124562	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1972611	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1984993	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2009072	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2111988	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2302900	0.96[CEU][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2358539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28628775	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34039674	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34614542	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34825838	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34849043	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34858415	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34894919	0.81[ASN][1000 genomes]
rs35209607	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35535298	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35663729	0.83[EUR][1000 genomes]
rs35768991	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35878271	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35933908	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36017775	0.80[ASN][1000 genomes]
rs3861100	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4348979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.83[ASN][1000 genomes]
rs4421818	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs4768855	0.81[ASN][1000 genomes]
rs4768872	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768949	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768951	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs6580730	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6580735	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580736	0.96[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs6580737	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6580738	0.96[CEU][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs6580739	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580740	0.83[EUR][1000 genomes]
rs6580741	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67138019	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7132551	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7134595	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs7135777	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7138420	0.96[CEU][hapmap]
rs7138622	0.96[CEU][hapmap]
rs71465002	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295847	0.84[ASN][1000 genomes]
rs7296291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.84[ASN][1000 genomes]
rs7301186	0.81[EUR][1000 genomes]
rs7301189	0.80[EUR][1000 genomes]
rs7302363	0.83[ASN][1000 genomes]
rs7304445	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7305995	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7308095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308885	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7310541	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311378	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311491	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311973	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7312252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.84[ASN][1000 genomes]
rs7314465	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7315690	0.96[CEU][hapmap]
rs7315871	0.84[EUR][1000 genomes]
rs7315955	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7399343	0.82[EUR][1000 genomes]
rs7485486	0.83[EUR][1000 genomes]
rs7486747	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7488682	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7489214	0.82[EUR][1000 genomes]
rs7953953	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7956468	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7974648	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7979830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7980911	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9668187	0.81[ASN][1000 genomes]
rs9705460	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9739363	0.83[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	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3812825	DIP2B	cis	multi-tissue	Pritchard
rs3812825	DIP2B	cis	Lymphoblastoid	GTEx
rs3812825	KIAA1463	cis	multi-tissue	Pritchard
rs3812825	CERS5	cis	Nerve Tibial	GTEx
rs3812825	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs3812825	ATF1	cis	Artery Tibial	GTEx
rs3812825	POU6F1	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50599800-50635800	Weak transcription	Pancreas	Pancrea
2	chr12:50609200-50633200	Weak transcription	Small Intestine	intestine
3	chr12:50612400-50616400	Active TSS	NHEK	skin
4	chr12:50612600-50616600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:50612600-50616800	Active TSS	HSMMtube	muscle
6	chr12:50612600-50616800	Active TSS	NHLF	lung
7	chr12:50613000-50616800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:50613000-50616800	Active TSS	HSMM	muscle
9	chr12:50613200-50616600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:50613200-50616800	Active TSS	NHDF-Ad	bronchial
11	chr12:50613200-50617200	Active TSS	GM12878-XiMat	blood
12	chr12:50613400-50616600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr12:50613400-50616600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:50613400-50616800	Active TSS	Aorta	Aorta
15	chr12:50613600-50616400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr12:50613600-50616600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:50613600-50616600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:50613600-50616600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:50613600-50616600	Active TSS	HMEC	breast
20	chr12:50613600-50616800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:50613600-50616800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:50613600-50616800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr12:50613800-50616600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:50613800-50616600	Active TSS	Fetal Muscle Trunk	muscle
25	chr12:50613800-50616600	Active TSS	NH-A	brain
26	chr12:50613800-50616600	Active TSS	Osteobl	bone
27	chr12:50613800-50616800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:50613800-50616800	Active TSS	Right Atrium	heart
29	chr12:50613800-50617000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:50614000-50616400	Active TSS	Right Ventricle	heart
31	chr12:50614000-50616600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:50614000-50616600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:50614000-50616600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:50614000-50616600	Active TSS	Colonic Mucosa	Colon
35	chr12:50614000-50616600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr12:50614000-50616600	Flanking Active TSS	Hela-S3	cervix
37	chr12:50614000-50616800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr12:50614000-50616800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:50614000-50616800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:50614000-50616800	Active TSS	Brain Hippocampus Middle	brain
41	chr12:50614000-50617200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr12:50614000-50617200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:50614000-50617600	Flanking Active TSS	Dnd41	blood
44	chr12:50614200-50616400	ZNF genes & repeats	Fetal Brain Male	brain
45	chr12:50614200-50616400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr12:50614200-50616600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:50614200-50616600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:50614200-50616600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:50614200-50616600	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr12:50614200-50616600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum

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