Variant report

Variant	rs946682
Chromosome Location	chr1:153919756-153919757
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153917857-153919831	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr1:153917081-153920163	GM12878	blood:	n/a	n/a
3	HCFC1	chr1:153917543-153919768	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:153919113-153919887	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:153917893-153920035	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:153916730-153920129	GM12892	blood:	n/a	n/a
7	POLR2A	chr1:153918829-153919792	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr1:153919117-153920027	GM12891	blood:	n/a	n/a
9	JUN	chr1:153918408-153919976	K562	blood:	n/a	n/a
10	POLR2A	chr1:153917843-153920067	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:153917408-153920123	HL-60	blood:	n/a	n/a
12	POLR2A	chr1:153919672-153920136	K562	blood:	n/a	n/a
13	PML	chr1:153917377-153920125	GM12878	blood:	n/a	chr1:153918651-153918659 chr1:153919097-153919105
14	POLR2A	chr1:153918947-153919905	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr1:153919620-153919770	AG04450	lung:	n/a	n/a
16	SPI1	chr1:153917320-153919797	GM12878	blood:	n/a	chr1:153919515-153919522 chr1:153919511-153919524 chr1:153917789-153917796 chr1:153918437-153918450 chr1:153918634-153918643 chr1:153918211-153918224 chr1:153919511-153919524
17	MXI1	chr1:153917772-153920071	IMR90	lung:	n/a	n/a
18	POLR2A	chr1:153918842-153920149	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr1:153917343-153919997	K562	blood:	n/a	n/a
20	POLR2A	chr1:153917398-153920127	GM12891	blood:	n/a	n/a
21	POLR2A	chr1:153916720-153920791	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:153919707-153920071	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr1:153917414-153920138	GM12891	blood:	n/a	n/a
24	RUNX3	chr1:153917269-153919759	GM12878	blood:	n/a	chr1:153918936-153918951
25	POLR2A	chr1:153917328-153920121	GM12891	blood:	n/a	n/a
26	POLR2A	chr1:153916916-153920685	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:153919605-153920039	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:153919689-153920062	H1-hESC	embryonic stem cell:	n/a	n/a
29	STAT5A	chr1:153916987-153920025	GM12878	blood:	n/a	chr1:153917899-153917911 chr1:153918632-153918643 chr1:153919849-153919861 chr1:153917791-153917798
30	POLR2A	chr1:153917517-153919861	GM10847	blood:	n/a	n/a
31	POLR2A	chr1:153917447-153919974	GM12892	blood:	n/a	n/a
32	POLR2A	chr1:153917665-153919930	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr1:153918007-153919994	U87	brain:	n/a	n/a
34	RELA	chr1:153917446-153919834	GM12891	blood:	n/a	n/a
35	MXI1	chr1:153917683-153919756	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr1:153918992-153920737	K562	blood:	n/a	n/a
37	POLR2A	chr1:153919549-153920010	HCT-116	colon:	n/a	n/a
38	POLR2A	chr1:153918935-153919962	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr1:153916141-153921885	GM12878	blood:	n/a	n/a
40	BHLHE40	chr1:153919083-153919776	K562	blood:	n/a	n/a
41	POLR2A	chr1:153919497-153920067	GM12878	blood:	n/a	n/a
42	NFATC1	chr1:153918891-153919794	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:153917390-153920072	K562	blood:	n/a	n/a
44	NFATC1	chr1:153919006-153919773	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:153919749-153919889	A549	lung:	n/a	n/a
46	POLR2A	chr1:153918065-153919789	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:153917559-153920023	K562	blood:	n/a	n/a
48	POLR2A	chr1:153918563-153919768	K562	blood:	n/a	n/a
49	POLR2A	chr1:153919059-153919988	GM12892	blood:	n/a	n/a
50	POLR2A	chr1:153917428-153920074	GM19193	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153764949..153767946-chr1:153918589..153920254,2	MCF-7	breast:
2	chr1:153769778..153772240-chr1:153919486..153923010,3	MCF-7	breast:
3	chr1:153915931..153921352-chr1:153944041..153951714,10	K562	blood:
4	chr1:153919251..153920195-chr11:65627547..65628363,2	Hela-S3	cervix:
5	chr1:153916668..153920266-chr1:154191885..154196472,6	MCF-7	breast:
6	chr1:153746829..153749902-chr1:153919272..153921827,3	MCF-7	breast:
7	chr1:153635563..153637624-chr1:153917460..153920426,2	K562	blood:
8	chr1:153917479..153920688-chr1:154153090..154156398,3	MCF-7	breast:
9	chr1:153747034..153749819-chr1:153917632..153921416,5	MCF-7	breast:
10	chr1:153917215..153920392-chr1:153961808..153965282,6	K562	blood:
11	chr1:153767630..153769131-chr1:153919498..153921355,2	K562	blood:
12	chr1:153642114..153645022-chr1:153918498..153920890,2	MCF-7	breast:
13	chr1:153919198..153921722-chr1:153956658..153959450,2	K562	blood:
14	chr1:153642060..153644288-chr1:153917037..153920697,4	K562	blood:

No data

Variant related genes	Relation type
DENND4B	TF binding region
ENSG00000143545	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000231827	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143543	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000177954	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10127983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1043608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10559	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796968	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10908557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10908558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10908627	0.91[ASW][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap]
rs1110165	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264559	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264567	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11264619	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264620	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264680	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11264734	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11264743	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11264763	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11264866	0.91[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap]
rs11264871	0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs11264873	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11264875	0.83[ASW][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs11264886	0.88[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs11264964	1.00[ASW][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11264974	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11265040	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs11265049	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11265076	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11265082	0.91[ASW][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];0.89[YRI][hapmap]
rs11265099	0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap]
rs11265122	0.83[ASW][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs11577942	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11581644	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11583152	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11585416	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11586075	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586593	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11586701	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11586830	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11587151	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11589043	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11589857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11590099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11591134	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12021641	0.91[ASW][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.80[YRI][hapmap]
rs12022158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12022730	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023699	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12027783	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12028398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033835	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12038577	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12041850	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12041920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12048137	0.88[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs12401565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12403956	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12406003	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12409811	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12564669	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12567313	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1547767	0.81[EUR][1000 genomes]
rs1572788	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34805562	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3748848	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4508047	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4520447	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4595397	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4612664	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4845357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845358	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845576	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4845578	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4845583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845585	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845600	0.83[ASW][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs4845601	0.83[ASW][hapmap];0.86[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs58095661	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59308681	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59678326	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60150125	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61219911	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427329	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6659220	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6666703	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6667928	0.83[ASW][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs6671132	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6672856	0.83[ASW][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs6678826	0.83[ASW][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs6680140	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694061	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6700451	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6701341	0.91[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap]
rs6724	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72694231	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72694234	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7521303	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7524739	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7537691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547663	0.85[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs7552274	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7552737	0.91[ASW][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];0.80[YRI][hapmap]
rs8450	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9660089	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
6	nsv872450	chr1:153889042-153937513	Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv532552	chr1:153912047-153950752	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs946682	FLG	cis	parietal	SCAN
rs946682	TDRD10	cis	parietal	SCAN
rs946682	GATAD2B	cis	cerebellum	SCAN
rs946682	HAX1	cis	parietal	SCAN
rs946682	SLC27A3	cis	cerebellum	SCAN
rs946682	CRTC2	cis	cerebellum	SCAN
rs946682	RAB13	cis	lymphoblastoid	seeQTL
rs946682	SPRR2D	cis	parietal	SCAN
rs946682	CRTC2	cis	lymphoblastoid	seeQTL
rs946682	LASS2	cis	parietal	SCAN
rs946682	CRTC2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153918800-153922800	Weak transcription	Fetal Kidney	kidney
2	chr1:153919000-153919800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr1:153919000-153919800	Enhancers	Fetal Brain Male	brain
4	chr1:153919200-153919800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:153919200-153919800	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr1:153919200-153919800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr1:153919200-153919800	Enhancers	Stomach Mucosa	stomach
8	chr1:153919200-153919800	Flanking Active TSS	K562	blood
9	chr1:153919200-153920000	Enhancers	Brain Substantia Nigra	brain
10	chr1:153919200-153920200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:153919200-153920400	Weak transcription	Ovary	ovary
12	chr1:153919200-153920600	Weak transcription	Aorta	Aorta
13	chr1:153919200-153923600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:153919200-153929600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:153919400-153919800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:153919400-153919800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:153919400-153919800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:153919400-153919800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:153919400-153919800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:153919400-153919800	Flanking Active TSS	Colonic Mucosa	Colon
21	chr1:153919400-153919800	Enhancers	Fetal Heart	heart
22	chr1:153919400-153919800	Genic enhancers	Fetal Thymus	thymus
23	chr1:153919400-153919800	Weak transcription	Left Ventricle	heart
24	chr1:153919400-153919800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:153919400-153919800	Genic enhancers	Thymus	Thymus
26	chr1:153919400-153919800	Flanking Active TSS	Hela-S3	cervix
27	chr1:153919400-153919800	Genic enhancers	HUVEC	blood vessel
28	chr1:153919400-153920000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:153919400-153920000	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:153919400-153920000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:153919400-153920000	Genic enhancers	Fetal Stomach	stomach
32	chr1:153919400-153920000	Enhancers	Right Ventricle	heart
33	chr1:153919400-153920200	Weak transcription	Primary T cells from cord blood	blood
34	chr1:153919400-153920400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:153919400-153920400	Weak transcription	Psoas Muscle	Psoas
36	chr1:153919400-153920600	Weak transcription	Esophagus	oesophagus
37	chr1:153919400-153920600	Genic enhancers	Placenta	Placenta
38	chr1:153919400-153920800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:153919400-153920800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:153919400-153920800	Genic enhancers	Liver	Liver
41	chr1:153919400-153927800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:153919400-153927800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:153919400-153928400	Weak transcription	Right Atrium	heart
44	chr1:153919600-153919800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:153919600-153919800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:153919600-153919800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:153919600-153919800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:153919600-153919800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:153919600-153919800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:153919600-153919800	Enhancers	HUES64 Cell Line	embryonic stem cell

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