Variant report

Variant	rs6680140
Chromosome Location	chr1:153917369-153917370
allele	C/T
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	CREB1	chr1:153916781-153917495	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF1	chr1:153917006-153917407	K562	blood:	n/a	n/a
3	CREB1	chr1:153917075-153917401	A549	lung:	n/a	n/a
4	POLR2A	chr1:153917081-153920163	GM12878	blood:	n/a	n/a
5	JUN	chr1:153917093-153917408	HepG2	liver:	n/a	chr1:153917219-153917228 chr1:153917218-153917231 chr1:153917239-153917252 chr1:153917240-153917249
6	POLR2A	chr1:153916730-153920129	GM12892	blood:	n/a	n/a
7	ATF2	chr1:153916935-153917643	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr1:153917096-153917617	K562	blood:	n/a	n/a
9	POLR2A	chr1:153916855-153919612	GM12878	blood:	n/a	n/a
10	STAT1	chr1:153917291-153917409	GM12878	blood:	n/a	n/a
11	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
12	CREB1	chr1:153916831-153917447	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:153917343-153919997	K562	blood:	n/a	n/a
14	POLR2A	chr1:153916720-153920791	GM12878	blood:	n/a	n/a
15	RUNX3	chr1:153917269-153919759	GM12878	blood:	n/a	chr1:153918936-153918951
16	POLR2A	chr1:153917328-153920121	GM12891	blood:	n/a	n/a
17	POLR2A	chr1:153916916-153920685	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:153916846-153918808	PFSK-1	brain:	n/a	n/a
19	STAT5A	chr1:153916987-153920025	GM12878	blood:	n/a	chr1:153917899-153917911 chr1:153918632-153918643 chr1:153919849-153919861 chr1:153917791-153917798
20	RELA	chr1:153917149-153918861	GM18505	blood:	n/a	n/a
21	CREB1	chr1:153916942-153917391	HepG2	liver:	n/a	n/a
22	CREB1	chr1:153916788-153918225	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:153916878-153917392	GM12891	blood:	n/a	n/a
24	ZC3H11A	chr1:153917071-153917603	K562	blood:	n/a	n/a
25	POLR2A	chr1:153916141-153921885	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:153917062-153919485	GM19099	blood:	n/a	n/a
27	RCOR1	chr1:153917235-153917992	GM12878	blood:	n/a	n/a
28	CREB1	chr1:153916744-153918848	GM12878	blood:	n/a	n/a
29	CREB1	chr1:153916824-153917570	K562	blood:	n/a	n/a
30	JUND	chr1:153917058-153917408	HepG2	liver:	n/a	chr1:153917219-153917228 chr1:153917240-153917249
31	WRNIP1	chr1:153916898-153918270	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:153916284-153918714	K562	blood:	n/a	n/a
33	ATF2	chr1:153916891-153917487	GM12878	blood:	n/a	n/a
34	TBL1XR1	chr1:153917138-153919479	GM12878	blood:	n/a	n/a
35	CREB1	chr1:153916806-153917798	K562	blood:	n/a	n/a
36	NFATC1	chr1:153917108-153917957	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:153917304-153918776	SK-N-MC	brain:	n/a	n/a
38	NR2F2	chr1:153917060-153918765	K562	blood:	n/a	n/a
39	POLR2A	chr1:153916948-153920049	GM18505	blood:	n/a	n/a
40	POLR2A	chr1:153917015-153920136	GM12892	blood:	n/a	n/a
41	NFIC	chr1:153916870-153917393	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:153917292-153919621	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr1:153916854-153921234	GM12891	blood:	n/a	n/a
44	MTA3	chr1:153916904-153920062	GM12878	blood:	n/a	n/a
45	CHD2	chr1:153917106-153917953	GM12878	blood:	n/a	n/a
46	BCLAF1	chr1:153917363-153918899	GM12878	blood:	n/a	chr1:153918507-153918520 chr1:153918634-153918643
47	POLR2A	chr1:153916543-153920136	K562	blood:	n/a	n/a
48	USF1	chr1:153916984-153917398	K562	blood:	n/a	n/a
49	RELA	chr1:153917109-153918812	GM18951	blood:	n/a	n/a
50	POLR2A	chr1:153917300-153920084	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153748212..153751120-chr1:153917241..153919108,2	K562	blood:
2	chr1:153915931..153921352-chr1:153944041..153951714,10	K562	blood:
3	chr1:153916668..153920266-chr1:154191885..154196472,6	MCF-7	breast:
4	chr1:153915763..153918216-chr1:154155038..154156841,2	MCF-7	breast:
5	chr1:153917215..153920392-chr1:153961808..153965282,6	K562	blood:
6	chr1:153642060..153644288-chr1:153917037..153920697,4	K562	blood:

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

Extended variants
information (count: 115 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:108)

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];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1043608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796968	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[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];0.95[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];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.96[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];0.99[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];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264559	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264567	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11264619	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264620	0.98[AMR][1000 genomes];0.99[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];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11264734	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[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];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11264763	0.83[AMR][1000 genomes];0.84[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];0.88[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];0.97[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];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11583152	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11585416	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11586075	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586593	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11586701	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11586830	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11587151	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11589043	0.92[AMR][1000 genomes];0.94[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];0.94[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];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11591134	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[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];0.86[MKK][hapmap];0.80[YRI][hapmap]
rs12022158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[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];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023699	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12027783	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[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];0.98[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];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[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];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12038577	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12041850	0.92[AMR][1000 genomes];0.90[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];0.94[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];0.94[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];0.90[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];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.94[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];0.94[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];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12406003	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12409811	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[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];0.89[EUR][1000 genomes];0.94[ASN][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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34805562	0.92[AMR][1000 genomes];0.91[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4508047	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4520447	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4595397	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4612664	0.86[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];0.84[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845358	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845576	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4845578	0.85[AMR][1000 genomes];0.90[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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845585	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59308681	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59678326	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60150125	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61219911	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427329	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6659220	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6666703	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[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];0.98[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];0.80[MKK][hapmap];0.89[YRI][hapmap]
rs6694061	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6700451	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[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];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72694231	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72694234	0.86[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];0.94[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];0.89[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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946682	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];0.87[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
rs6680140	CRTC2	cis	lymphoblastoid	seeQTL
rs6680140	GATAD2B	cis	cerebellum	SCAN
rs6680140	CRTC2	cis	cerebellum	SCAN
rs6680140	SPRR2D	cis	parietal	SCAN
rs6680140	HAX1	cis	parietal	SCAN
rs6680140	TDRD10	cis	parietal	SCAN
rs6680140	LASS2	cis	parietal	SCAN
rs6680140	FLG	cis	parietal	SCAN
rs6680140	CRTC2	cis	multi-tissue	Pritchard
rs6680140	SLC27A3	cis	cerebellum	SCAN
rs6680140	RAB13	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153896800-153917600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:153905000-153917400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:153909200-153918000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:153910200-153917400	Weak transcription	HUVEC	blood vessel
5	chr1:153910400-153917400	Weak transcription	NH-A	brain
6	chr1:153910400-153917400	Weak transcription	NHDF-Ad	bronchial
7	chr1:153910400-153917600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:153910400-153918000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:153910600-153917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:153910600-153917400	Weak transcription	Fetal Kidney	kidney
11	chr1:153910600-153917400	Weak transcription	HSMM	muscle
12	chr1:153910600-153917600	Weak transcription	HSMMtube	muscle
13	chr1:153912200-153917400	Weak transcription	Osteobl	bone
14	chr1:153913000-153917400	Weak transcription	Small Intestine	intestine
15	chr1:153913400-153917600	Weak transcription	Psoas Muscle	Psoas
16	chr1:153913800-153917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:153913800-153917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:153915000-153918000	Weak transcription	Aorta	Aorta
19	chr1:153915600-153917400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:153915800-153917400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:153915800-153917400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:153915800-153917400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:153915800-153917800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:153916000-153917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:153916400-153917400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:153916400-153917400	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr1:153916400-153917400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr1:153916400-153917400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:153916400-153917400	Enhancers	Spleen	Spleen
30	chr1:153916400-153917600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:153916400-153918200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:153916400-153918400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr1:153916400-153918600	Enhancers	Fetal Brain Male	brain
34	chr1:153916600-153917400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:153916600-153917400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr1:153916600-153917400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:153916600-153917400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:153916600-153917400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr1:153916600-153917400	Genic enhancers	Fetal Stomach	stomach
40	chr1:153916600-153917400	Enhancers	Gastric	stomach
41	chr1:153916600-153917400	Enhancers	Left Ventricle	heart
42	chr1:153916600-153917400	Enhancers	Right Ventricle	heart
43	chr1:153916600-153917600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:153916600-153917600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:153916600-153917600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr1:153916600-153917800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:153916600-153917800	Enhancers	Fetal Heart	heart
48	chr1:153916600-153918400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr1:153916600-153918400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr1:153916600-153918400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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