Variant report

Variant	rs6479001
Chromosome Location	chr9:102860928-102860929
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	POLR2A	chr9:102860231-102861995	GM12891	blood:	n/a	n/a
2	POLR2A	chr9:102860355-102862257	GM19099	blood:	n/a	n/a
3	RCOR1	chr9:102860278-102862229	K562	blood:	n/a	n/a
4	CREB1	chr9:102860419-102862237	HepG2	liver:	n/a	n/a
5	POLR2A	chr9:102860836-102862321	HUVEC	blood vessel:	n/a	n/a
6	HA-E2F1	chr9:102860811-102862324	MCF-7	breast:	n/a	n/a
7	TAF1	chr9:102860447-102861946	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr9:102860546-102862066	NB4	blood:	n/a	n/a
9	CHD2	chr9:102860521-102862343	Hela-S3	cervix:	n/a	chr9:102861818-102861828 chr9:102862183-102862193
10	CHD2	chr9:102860442-102861750	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr9:102860509-102862278	Raji	blood:	n/a	n/a
12	TFAP2C	chr9:102860534-102862371	Hela-S3	cervix:	n/a	chr9:102860835-102860850
13	MAZ	chr9:102860531-102862342	K562	blood:	n/a	chr9:102861825-102861835
14	POLR2A	chr9:102860319-102862220	GM12878	blood:	n/a	n/a
15	ARID3A	chr9:102860857-102861981	HepG2	liver:	n/a	n/a
16	UBTF	chr9:102860571-102862028	K562	blood:	n/a	n/a
17	POLR2A	chr9:102860457-102862257	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr9:102860909-102861955	A549	lung:	n/a	n/a
19	POLR2A	chr9:102860488-102862154	GM15510	blood:	n/a	n/a
20	MAX	chr9:102860748-102862346	NB4	blood:	n/a	chr9:102861825-102861835
21	POLR2A	chr9:102860405-102862329	GM18505	blood:	n/a	n/a
22	UBTF	chr9:102860637-102862010	K562	blood:	n/a	n/a
23	BCLAF1	chr9:102860428-102862100	GM12878	blood:	n/a	chr9:102861317-102861326 chr9:102861219-102861228
24	POLR2A	chr9:102860505-102862282	HepG2	liver:	n/a	n/a
25	POLR2A	chr9:102860507-102862057	HepG2	liver:	n/a	n/a
26	POU2F2	chr9:102860530-102861826	GM12891	blood:	n/a	n/a
27	POLR2A	chr9:102860749-102862039	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr9:102860558-102862034	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr9:102860560-102862251	K562	blood:	n/a	chr9:102861825-102861835
30	POLR2A	chr9:102860612-102862157	K562	blood:	n/a	n/a
31	HEY1	chr9:102860488-102861401	K562	blood:	n/a	n/a
32	SREBP1	chr9:102860148-102862462	GM12878	blood:	n/a	n/a
33	POLR2A	chr9:102860490-102862216	K562	blood:	n/a	n/a
34	SIN3A	chr9:102860305-102862418	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr9:102860505-102861942	K562	blood:	n/a	n/a
36	GABPA	chr9:102860927-102861832	SK-N-SH	brain:	n/a	chr9:102861448-102861457
37	GABPA	chr9:102860793-102861824	SK-N-SH	brain:	n/a	chr9:102861448-102861457
38	ZNF143	chr9:102860559-102862238	GM12878	blood:	n/a	chr9:102861448-102861466 chr9:102861352-102861361 chr9:102861513-102861531 chr9:102861343-102861361 chr9:102861515-102861524 chr9:102861350-102861359 chr9:102861513-102861522
39	MXI1	chr9:102860316-102862307	HepG2	liver:	n/a	n/a
40	TAF1	chr9:102860894-102861478	Hela-S3	cervix:	n/a	n/a
41	MAFK	chr9:102860879-102861074	HepG2	liver:	n/a	n/a
42	RUNX3	chr9:102860375-102862397	GM12878	blood:	n/a	n/a
43	TBL1XR1	chr9:102860922-102862129	K562	blood:	n/a	n/a
44	POLR2A	chr9:102860315-102862295	H1-hESC	embryonic stem cell:	n/a	n/a
45	ELK4	chr9:102860636-102861995	Hela-S3	cervix:	n/a	chr9:102861315-102861326
46	POLR2A	chr9:102860261-102861506	GM12891	blood:	n/a	n/a
47	PML	chr9:102860417-102862048	GM12878	blood:	n/a	n/a
48	BHLHE40	chr9:102860565-102862280	K562	blood:	n/a	n/a
49	POLR2A	chr9:102860233-102861686	K562	blood:	n/a	n/a
50	MAX	chr9:102860468-102862346	Hela-S3	cervix:	n/a	chr9:102861825-102861835

No.	Distal block	Cell Line	Cell type
1	chr9:102859693..102862029-chr9:102863024..102865040,3	MCF-7	breast:
2	chr9:102860210..102863951-chr9:102865614..102871017,5	K562	blood:
3	chr9:102667836..102670748-chr9:102860445..102862735,2	K562	blood:
4	chr9:102848064..102853071-chr9:102854113..102861263,11	K562	blood:
5	chr9:102581254..102583712-chr9:102860113..102863116,3	K562	blood:

Variant related genes	Relation type
RN7SL75P	TF binding region
INVS	TF binding region
ENSG00000136874	Chromatin interaction
ENSG00000255145	Chromatin interaction
ENSG00000237461	Chromatin interaction
ENSG00000239908	Chromatin interaction
ENSG00000119509	Chromatin interaction

Extended variants
information (count: 199 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:194)

rs_ID	r²[population]
rs10116798	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10117150	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1014651	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1014652	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10156395	0.85[ASN][1000 genomes]
rs10739795	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10739796	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10760710	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10760711	0.93[ASN][1000 genomes]
rs10760712	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10760720	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10819714	0.93[ASN][1000 genomes]
rs10819715	0.93[ASN][1000 genomes]
rs10819716	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10819717	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10819719	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10819737	0.96[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10819739	0.85[ASN][1000 genomes]
rs10988945	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10988963	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10988968	0.94[ASN][1000 genomes]
rs10988969	0.94[ASN][1000 genomes]
rs10988973	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs10988974	0.96[ASN][1000 genomes]
rs10989009	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1099909	0.83[AMR][1000 genomes]
rs11555502	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12336751	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12552646	1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.96[ASN][1000 genomes]
rs12685650	0.93[ASN][1000 genomes]
rs13301295	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1338119	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1338121	0.83[CHD][hapmap]
rs1338123	0.92[CEU][hapmap]
rs1338124	0.92[CEU][hapmap]
rs1338125	0.81[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap]
rs1342147	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs1361668	0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs1406613	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1415926	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1418267	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1529191	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[ASN][1000 genomes]
rs1529192	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];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1529193	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1534726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1535667	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1539297	0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs1572607	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs1578644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1578645	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1578646	0.93[ASN][1000 genomes]
rs1852864	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1852865	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1891334	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1999877	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs2057476	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2065997	0.84[CHD][hapmap]
rs2093696	0.93[ASN][1000 genomes]
rs2096158	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2104273	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2181579	1.00[CHD][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs2209082	0.86[ASN][1000 genomes]
rs2245216	0.81[CEU][hapmap]
rs2416985	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2476439	0.85[ASN][1000 genomes]
rs2476441	0.91[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2476442	0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2485745	0.92[CEU][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap]
rs2485746	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2491095	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2698999	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[ASN][1000 genomes]
rs2761053	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2761056	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2787361	0.91[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2787363	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2787364	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2787365	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2787366	0.91[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2787368	0.81[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap]
rs2787369	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs2787371	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs2787372	0.92[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap]
rs2787374	0.84[CHD][hapmap]
rs2787375	0.85[CEU][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap]
rs2787380	0.92[CEU][hapmap]
rs2787390	0.83[CHD][hapmap]
rs2787391	0.82[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes]
rs2787393	0.80[ASN][1000 genomes]
rs2787394	0.82[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes]
rs2787395	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes]
rs2787396	1.00[JPT][hapmap]
rs2787397	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes]
rs2791335	0.88[ASN][1000 genomes]
rs2791336	0.93[ASN][1000 genomes]
rs2791337	0.93[ASN][1000 genomes]
rs2795575	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs2806681	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs2806682	0.96[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2806683	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2806684	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2806687	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2806691	0.84[CHD][hapmap]
rs2806693	0.92[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.89[TSI][hapmap]
rs2806694	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs2806695	0.81[CEU][hapmap]
rs2806696	0.92[CEU][hapmap]
rs2806699	0.84[CHD][hapmap]
rs2806702	0.85[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap]
rs2806703	0.84[CHD][hapmap]
rs28448789	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35493819	0.81[ASN][1000 genomes]
rs3813712	0.83[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.80[TSI][hapmap]
rs3824510	0.85[ASN][1000 genomes]
rs41346545	0.93[ASN][1000 genomes]
rs4428721	0.81[ASW][hapmap]
rs4495492	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4503155	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4517187	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs4742779	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4743375	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743376	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743378	0.85[ASN][1000 genomes]
rs4743379	0.89[ASN][1000 genomes]
rs4743380	0.89[ASN][1000 genomes]
rs4743381	0.86[ASN][1000 genomes]
rs4743382	0.93[ASN][1000 genomes]
rs4743384	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4743386	0.96[ASN][1000 genomes]
rs6478991	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6478992	0.82[EUR][1000 genomes]
rs6478994	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6478995	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6478996	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6478997	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6478998	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6479000	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6479002	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];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018981	0.94[ASN][1000 genomes]
rs7022493	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7024016	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7025300	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7026532	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7027414	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7029020	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7029048	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7032333	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7033091	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7036518	0.89[ASN][1000 genomes]
rs7037362	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7041338	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7042194	0.93[ASN][1000 genomes]
rs7042912	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7043057	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7044219	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7045612	0.85[ASN][1000 genomes]
rs7047092	0.91[ASN][1000 genomes]
rs7846794	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];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7847213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7853485	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7856844	0.85[ASN][1000 genomes]
rs7857530	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7858606	0.93[ASN][1000 genomes]
rs7859492	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7861003	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7862460	0.93[ASN][1000 genomes]
rs7864494	0.85[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap]
rs7865257	0.81[ASW][hapmap]
rs7870585	0.91[ASN][1000 genomes]
rs7873746	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs7874449	0.89[ASN][1000 genomes]
rs846751	0.87[AMR][1000 genomes]
rs846752	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs846753	0.91[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs846754	0.96[ASN][1000 genomes]
rs846755	0.94[ASN][1000 genomes]
rs846756	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];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846758	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846759	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs846761	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs846762	0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs846765	0.90[AMR][1000 genomes]
rs846766	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs846768	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs846769	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs846770	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs860171	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs863668	0.85[ASN][1000 genomes]
rs9299337	0.90[AMR][1000 genomes]
rs9408995	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9409325	0.90[AMR][1000 genomes]
rs942163	0.93[ASN][1000 genomes]
rs946054	0.89[CEU][hapmap]
rs9695692	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9886877	1.00[ASW][hapmap];0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6479001	INVS	cis	cerebellum	SCAN
rs6479001	STX17	cis	Esophagus Mucosa	GTEx
rs6479001	MURC	cis	parietal	SCAN
rs6479001	STX17	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102859200-102862400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:102859200-102862600	Active TSS	GM12878-XiMat	blood
3	chr9:102859200-102862600	Active TSS	K562	blood
4	chr9:102859600-102861000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:102859600-102862800	Active TSS	NHLF	lung
6	chr9:102859800-102862200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr9:102860000-102861000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:102860000-102861000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr9:102860000-102861000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr9:102860000-102861200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr9:102860000-102862200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr9:102860000-102862600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:102860000-102862600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr9:102860000-102862600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr9:102860000-102862600	Active TSS	NHDF-Ad	bronchial
16	chr9:102860000-102862800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr9:102860000-102862800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr9:102860200-102861200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr9:102860200-102862000	Active TSS	Colonic Mucosa	Colon
20	chr9:102860200-102862000	Active TSS	Rectal Smooth Muscle	rectum
21	chr9:102860200-102862000	Active TSS	HSMMtube	muscle
22	chr9:102860200-102862200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:102860200-102862200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:102860200-102862200	Active TSS	Esophagus	oesophagus
25	chr9:102860200-102862200	Active TSS	Gastric	stomach
26	chr9:102860200-102862200	Active TSS	Lung	lung
27	chr9:102860200-102862400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr9:102860200-102862400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr9:102860200-102862400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:102860200-102862400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:102860200-102862400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:102860200-102862400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:102860200-102862400	Active TSS	Aorta	Aorta
34	chr9:102860200-102862400	Active TSS	Fetal Muscle Trunk	muscle
35	chr9:102860200-102862400	Active TSS	Left Ventricle	heart
36	chr9:102860200-102862400	Active TSS	Ovary	ovary
37	chr9:102860200-102862400	Active TSS	Thymus	Thymus
38	chr9:102860200-102862600	Active TSS	Right Atrium	heart
39	chr9:102860200-102862600	Active TSS	A549	lung
40	chr9:102860200-102862800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:102860200-102862800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:102860200-102862800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:102860200-102862800	Active TSS	Right Ventricle	heart
44	chr9:102860400-102861000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr9:102860400-102861000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:102860400-102861800	Active TSS	Brain Germinal Matrix	brain
47	chr9:102860400-102862000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr9:102860400-102862000	Active TSS	Pancreas	Pancrea
49	chr9:102860400-102862000	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr9:102860400-102862000	Active TSS	Small Intestine	intestine

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