Variant report

Variant	rs677937
Chromosome Location	chr6:35889121-35889122
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	MAX	chr6:35888450-35889411	A549	lung:	n/a	chr6:35889002-35889012 chr6:35889021-35889031
2	REST	chr6:35888640-35889248	K562	blood:	n/a	chr6:35889148-35889166 chr6:35889147-35889167 chr6:35889011-35889024 chr6:35889147-35889167 chr6:35889147-35889167
3	BHLHE40	chr6:35888736-35889264	K562	blood:	n/a	n/a
4	POLR2A	chr6:35888510-35889135	GM12892	blood:	n/a	n/a
5	PML	chr6:35888548-35889210	K562	blood:	n/a	n/a
6	MAX	chr6:35888533-35889347	H1-hESC	embryonic stem cell:	n/a	chr6:35889002-35889012 chr6:35889021-35889031
7	POLR2A	chr6:35888637-35889146	HCT-116	colon:	n/a	n/a
8	EGR1	chr6:35888552-35889353	HCT-116	colon:	n/a	chr6:35888963-35888972 chr6:35889002-35889015 chr6:35889004-35889014 chr6:35889005-35889015 chr6:35889002-35889015 chr6:35889024-35889034 chr6:35888936-35888950
9	E2F6	chr6:35888672-35889202	A549	lung:	n/a	chr6:35888963-35888972 chr6:35889127-35889134
10	EGR1	chr6:35888707-35889271	K562	blood:	n/a	chr6:35888963-35888972 chr6:35889002-35889015 chr6:35889004-35889014 chr6:35889005-35889015 chr6:35889002-35889015 chr6:35889024-35889034 chr6:35888936-35888950
11	BHLHE40	chr6:35888646-35889256	GM12878	blood:	n/a	n/a
12	TAF1	chr6:35888554-35889125	SK-N-SH	brain:	n/a	n/a
13	RUNX3	chr6:35888603-35889196	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:35888490-35889271	ProgFib	skin:	n/a	n/a
15	NFIC	chr6:35888616-35889360	HepG2	liver:	n/a	n/a
16	EP300	chr6:35888717-35889586	K562	blood:	n/a	chr6:35889452-35889466 chr6:35889321-35889334
17	ZBTB7A	chr6:35888748-35889139	HepG2	liver:	n/a	chr6:35889026-35889035
18	POLR2A	chr6:35888513-35889320	K562	blood:	n/a	n/a
19	JUND	chr6:35888686-35889294	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:35888617-35889222	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:35888565-35889250	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:35886285-35889287	MCF10A-Er-Src	breast:	n/a	n/a
23	REST	chr6:35888520-35889312	HepG2	liver:	n/a	chr6:35889148-35889166 chr6:35889147-35889167 chr6:35889011-35889024 chr6:35889147-35889167 chr6:35889147-35889167
24	E2F4	chr6:35888704-35889352	MCF10A-Er-Src	breast:	n/a	chr6:35888963-35888972 chr6:35889127-35889134
25	YY1	chr6:35888527-35889194	K562	blood:	n/a	chr6:35889030-35889041
26	JUND	chr6:35888672-35889359	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr6:35887651-35889345	H1-hESC	embryonic stem cell:	n/a	n/a
28	SMC3	chr6:35888654-35889232	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr6:35888527-35889245	HL-60	blood:	n/a	n/a
30	FOXA1	chr6:35888924-35889266	HepG2	liver:	n/a	chr6:35889112-35889124
31	SIN3AK20	chr6:35888686-35889211	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:35887638-35889224	GM18951	blood:	n/a	n/a
33	POLR2A	chr6:35887583-35889220	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr6:35888519-35889226	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr6:35888518-35889124	GM12878	blood:	n/a	n/a
36	MAFF	chr6:35889001-35889327	K562	blood:	n/a	chr6:35889154-35889172
37	POLR2A	chr6:35888500-35889380	SK-N-MC	brain:	n/a	n/a
38	TAL1	chr6:35888637-35889239	K562	blood:	n/a	n/a
39	ZNF143	chr6:35888748-35889369	Hela-S3	cervix:	n/a	n/a
40	ARID3A	chr6:35888701-35889573	HepG2	liver:	n/a	n/a
41	EP300	chr6:35888761-35889187	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr6:35888516-35889271	Hela-S3	cervix:	n/a	n/a
43	CHD1	chr6:35888617-35889233	H1-hESC	embryonic stem cell:	n/a	chr6:35889127-35889134
44	NRF1	chr6:35888676-35889163	K562	blood:	n/a	chr6:35888854-35888865 chr6:35888964-35888973 chr6:35888959-35888973
45	CBX3	chr6:35888966-35889378	K562	blood:	n/a	n/a
46	E2F6	chr6:35887923-35889234	K562	blood:	n/a	chr6:35888963-35888972 chr6:35889127-35889134
47	POLR2A	chr6:35888544-35889123	A549	lung:	n/a	n/a
48	MAX	chr6:35888596-35889224	GM12878	blood:	n/a	chr6:35889002-35889012 chr6:35889021-35889031
49	POLR2A	chr6:35888662-35889282	HepG2	liver:	n/a	n/a
50	EP300	chr6:35888713-35889153	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:27324243..27326637-chr6:35887924..35890289,2	MCF-7	breast:
2	chr3:73045580..73046248-chr6:35888673..35889189,2	HCT-116	colon:
3	chr6:35886849..35889245-chr6:35993978..35995751,2	MCF-7	breast:
4	chr19:10443927..10444613-chr6:35888308..35889181,2	NB4	blood:
5	chr6:35888094..35890859-chr6:36167243..36169952,2	K562	blood:
6	chr6:35887479..35890120-chr6:35993309..35995768,2	K562	blood:

Variant related genes	Relation type
SRPK1	TF binding region
ENSG00000077238	Chromatin interaction
ENSG00000096070	Chromatin interaction
ENSG00000161847	Chromatin interaction
ENSG00000112062	Chromatin interaction
ENSG00000163605	Chromatin interaction

Extended variants
information (count: 150 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10484264	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs1049649	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10947572	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10947574	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10947576	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1160827	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1160828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751893	0.81[GIH][hapmap];0.89[MEX][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11755072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11755428	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11964319	0.81[EUR][1000 genomes]
rs11968149	0.90[EUR][1000 genomes]
rs12528878	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1326752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1326753	0.93[EUR][1000 genomes]
rs1326756	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs17653835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs17654270	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17705020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs1887170	0.82[EUR][1000 genomes]
rs2038962	0.90[EUR][1000 genomes]
rs2051647	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2148533	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2182546	0.91[EUR][1000 genomes]
rs2250151	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2301510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2395638	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2395640	1.00[CEU][hapmap];0.88[JPT][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2395641	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs2395643	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2395644	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2395645	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2395646	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2817027	0.96[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs2859420	0.85[CEU][hapmap]
rs3213580	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs3761981	0.85[CEU][hapmap]
rs3891863	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3997732	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4340986	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs582526	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59190698	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs595591	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612262	0.85[CEU][hapmap];0.83[GIH][hapmap]
rs613540	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619264	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs637661	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639421	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640867	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644229	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6457858	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs6457859	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6457860	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6457862	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6457864	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs651158	0.81[CEU][hapmap];0.81[GIH][hapmap]
rs657036	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659532	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs661337	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661658	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs662713	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668438	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671992	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675664	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6905144	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6906455	0.82[EUR][1000 genomes]
rs6908433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6909895	0.85[CEU][hapmap]
rs6910260	0.83[EUR][1000 genomes]
rs6910906	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6911849	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6916941	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6921531	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6922695	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6923015	0.94[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6923312	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6926156	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6929493	0.94[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6931888	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs6932973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6933287	0.90[EUR][1000 genomes]
rs721694	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72919002	0.83[EUR][1000 genomes]
rs7740886	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7741794	0.80[EUR][1000 genomes]
rs7744924	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7749862	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7752545	1.00[CEU][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7752551	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7755022	0.85[CEU][hapmap]
rs7755600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7758042	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs7763752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7774060	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7776342	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs879493	0.85[CEU][hapmap]
rs879667	0.85[CEU][hapmap]
rs879668	0.84[EUR][1000 genomes]
rs9296166	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9296168	0.82[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9462125	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9462127	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9462128	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9462131	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9462132	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9462133	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9462134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9462135	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9462136	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs9462141	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9462143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9462144	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9470111	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9470118	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9470119	0.91[EUR][1000 genomes]
rs9470120	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9470121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9470122	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9470123	0.92[EUR][1000 genomes]
rs9470124	0.88[EUR][1000 genomes]
rs9470125	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9470126	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9470130	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9470131	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9470136	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9470138	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9470139	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9470140	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9470141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9470142	0.95[EUR][1000 genomes]
rs9470144	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9470147	0.82[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9470151	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9470152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9470153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9470154	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9470155	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470157	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470161	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470162	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9470166	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9470167	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9470169	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9470171	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs9470172	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9470173	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][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	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3403583	chr6:35887399-35889947	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs677937	SRPK1	cis	cerebellum	SCAN
rs677937	CDKN1A	cis	cerebellum	SCAN
rs677937	SRPK1	cis	parietal	SCAN
rs677937	BRPF3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35886000-35889200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:35886000-35889200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:35886000-35889800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:35886000-35890000	Active TSS	GM12878-XiMat	blood
5	chr6:35886200-35889400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr6:35886200-35889600	Active TSS	Fetal Intestine Large	intestine
7	chr6:35886400-35889400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:35886400-35889400	Active TSS	Brain Anterior Caudate	brain
9	chr6:35886400-35889600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:35886400-35889600	Active TSS	Brain Cingulate Gyrus	brain
11	chr6:35886400-35889600	Active TSS	HMEC	breast
12	chr6:35886400-35890400	Active TSS	A549	lung
13	chr6:35886600-35889200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr6:35886600-35889600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:35886800-35889200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:35886800-35889200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:35886800-35889200	Active TSS	Fetal Intestine Small	intestine
18	chr6:35886800-35889400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr6:35886800-35889400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr6:35886800-35889400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr6:35886800-35889400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:35886800-35889400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:35886800-35889400	Active TSS	NHLF	lung
24	chr6:35887000-35889200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:35887000-35889200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:35887000-35889200	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr6:35887000-35889200	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr6:35887000-35889400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:35887000-35889400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:35887000-35889400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:35887000-35889400	Active TSS	Esophagus	oesophagus
32	chr6:35887000-35889400	Active TSS	HSMM	muscle
33	chr6:35887000-35890000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:35887000-35890200	Active TSS	Hela-S3	cervix
35	chr6:35887200-35889200	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr6:35887200-35889200	Active TSS	NHDF-Ad	bronchial
37	chr6:35887200-35889600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr6:35887200-35889800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:35887200-35889800	Active TSS	Aorta	Aorta
40	chr6:35887200-35889800	Active TSS	NHEK	skin
41	chr6:35887400-35889200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:35887400-35889200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:35887400-35889200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:35887400-35889200	Active TSS	Gastric	stomach
45	chr6:35887400-35889400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:35887400-35889400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:35887400-35889400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:35887400-35889800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:35887400-35890000	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr6:35887600-35889200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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