Variant report

Variant	rs17740658
Chromosome Location	chr8:86158249-86158250
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	MYC	chr8:86157777-86158366	NB4	blood:	n/a	chr8:86157995-86158005
2	MAX	chr8:86157233-86158416	A549	lung:	n/a	chr8:86157446-86157455 chr8:86157447-86157456 chr8:86157444-86157457 chr8:86157444-86157452 chr8:86157448-86157455 chr8:86157446-86157456 chr8:86157680-86157689 chr8:86157995-86158005 chr8:86157445-86157456 chr8:86157441-86157460
3	SIN3A	chr8:86157304-86158522	H1-hESC	embryonic stem cell:	n/a	chr8:86157363-86157372
4	MAX	chr8:86157836-86158485	GM12878	blood:	n/a	chr8:86157995-86158005
5	CCNT2	chr8:86157563-86158468	K562	blood:	n/a	n/a
6	EBF1	chr8:86157601-86158824	GM12878	blood:	n/a	n/a
7	MAZ	chr8:86157763-86158728	GM12878	blood:	n/a	chr8:86157995-86158005
8	MXI1	chr8:86157937-86158662	GM12878	blood:	n/a	n/a
9	RCOR1	chr8:86157978-86158657	K562	blood:	n/a	n/a
10	ELF1	chr8:86157405-86158503	MCF-7	breast:	n/a	n/a
11	SPI1	chr8:86157889-86158459	GM12891	blood:	n/a	chr8:86157990-86158003
12	POLR2A	chr8:86157828-86158455	GM12878	blood:	n/a	n/a
13	CHD2	chr8:86157449-86158363	HepG2	liver:	n/a	chr8:86158099-86158106
14	POLR2A	chr8:86157455-86158477	K562	blood:	n/a	n/a
15	POLR2A	chr8:86157481-86158423	GM12892	blood:	n/a	n/a
16	PML	chr8:86157872-86158395	GM12878	blood:	n/a	chr8:86158208-86158216
17	MAX	chr8:86157484-86158374	HepG2	liver:	n/a	chr8:86157680-86157689 chr8:86157995-86158005
18	PAX5	chr8:86157733-86158440	GM12878	blood:	n/a	chr8:86158031-86158040 chr8:86157859-86157868
19	POLR2A	chr8:86157417-86158491	K562	blood:	n/a	n/a
20	POLR2A	chr8:86157429-86158554	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr8:86157563-86158431	GM19193	blood:	n/a	n/a
22	KAP1	chr8:86157337-86158577	U2OS	brain:	n/a	chr8:86158208-86158216 chr8:86157678-86157687
23	POLR2A	chr8:86157464-86158474	GM18505	blood:	n/a	n/a
24	MAZ	chr8:86157139-86158592	K562	blood:	n/a	chr8:86157446-86157455 chr8:86157447-86157456 chr8:86157444-86157457 chr8:86157444-86157452 chr8:86157448-86157455 chr8:86157446-86157456 chr8:86157680-86157689 chr8:86157995-86158005 chr8:86157445-86157456 chr8:86157441-86157460
25	CREB1	chr8:86157907-86158596	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr8:86157952-86158448	GM12891	blood:	n/a	n/a
27	SPI1	chr8:86158090-86158337	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:86157438-86158499	HepG2	liver:	n/a	n/a
29	POU2F2	chr8:86157753-86158443	GM12878	blood:	n/a	n/a
30	MYC	chr8:86158120-86158844	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA2	chr8:86158189-86158468	HepG2	liver:	n/a	n/a
32	MYC	chr8:86157297-86158618	MCF10A-Er-Src	breast:	n/a	chr8:86157446-86157455 chr8:86157447-86157456 chr8:86157444-86157457 chr8:86157444-86157452 chr8:86157448-86157455 chr8:86157446-86157456 chr8:86157680-86157689 chr8:86157995-86158005 chr8:86157445-86157456 chr8:86157441-86157460
33	MAFF	chr8:86158035-86158441	HepG2	liver:	n/a	n/a
34	JUN	chr8:86157095-86158934	K562	blood:	n/a	chr8:86157679-86157689 chr8:86157678-86157690 chr8:86157843-86157854 chr8:86157679-86157689 chr8:86157679-86157689 chr8:86157679-86157688 chr8:86157679-86157689
35	EBF1	chr8:86157888-86158413	GM12878	blood:	n/a	n/a
36	RCOR1	chr8:86157758-86158514	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:86157526-86158357	MCF-7	breast:	n/a	n/a
38	POLR2A	chr8:86157759-86158328	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:86157569-86158285	K562	blood:	n/a	n/a
40	POLR2A	chr8:86157511-86158434	K562	blood:	n/a	n/a
41	PAX5	chr8:86157760-86158369	GM12891	blood:	n/a	chr8:86158031-86158040 chr8:86157859-86157868
42	POLR2A	chr8:86157954-86158457	GM12891	blood:	n/a	n/a
43	GTF2F1	chr8:86158077-86158342	K562	blood:	n/a	n/a
44	POLR2A	chr8:86157439-86158329	HCT-116	colon:	n/a	n/a
45	POLR2A	chr8:86157549-86158497	HepG2	liver:	n/a	n/a
46	BRCA1	chr8:86158193-86158399	HepG2	liver:	n/a	n/a
47	POU2F2	chr8:86157962-86158412	GM12891	blood:	n/a	n/a
48	POLR2A	chr8:86158164-86158491	HepG2	liver:	n/a	n/a
49	POLR2A	chr8:86157545-86158463	GM18951	blood:	n/a	n/a
50	POLR2A	chr8:86157629-86158465	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:86132667..86134494-chr8:86156330..86158323,2	K562	blood:
2	chr8:86132529..86133453-chr8:86157485..86158364,3	K562	blood:
3	chr8:86158140..86160236-chr8:86162041..86163568,2	K562	blood:
4	chr8:86130126..86132730-chr8:86156867..86158422,2	K562	blood:
5	chr8:86132561..86133614-chr8:86157413..86158314,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258256	TF binding region
ENSG00000257962	Chromatin interaction
ENSG00000176731	Chromatin interaction
ENSG00000185015	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10088120	0.95[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap]
rs10090196	0.81[ASW][hapmap];0.96[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10091582	0.82[ASN][1000 genomes]
rs10099251	0.82[ASN][1000 genomes]
rs10100442	0.89[JPT][hapmap];0.88[TSI][hapmap]
rs10106970	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110461	0.82[ASN][1000 genomes]
rs10111971	0.82[ASN][1000 genomes]
rs1021583	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11261468	0.85[JPT][hapmap];0.84[MEX][hapmap]
rs11261469	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11261471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11261474	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs11985733	0.82[JPT][hapmap]
rs12541299	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12541445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12543256	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12544332	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs12546106	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12550160	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12679400	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1303806	0.86[JPT][hapmap]
rs13252971	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs13259399	0.83[CHB][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.81[ASN][1000 genomes]
rs13259464	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13269739	0.95[JPT][hapmap]
rs1390711	0.86[JPT][hapmap]
rs1493302	0.82[JPT][hapmap]
rs1496529	0.82[JPT][hapmap]
rs1496530	0.82[JPT][hapmap]
rs1496531	0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs1496532	0.86[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap]
rs1532424	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs1553015	0.86[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]
rs1553016	0.82[ASN][1000 genomes]
rs1553017	0.82[ASN][1000 genomes]
rs16913681	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16913721	0.81[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1845891	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1845892	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1908762	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1995056	0.81[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs1995057	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]
rs1995058	0.86[JPT][hapmap]
rs2006767	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs20571	0.82[JPT][hapmap]
rs2072696	0.81[JPT][hapmap]
rs2132589	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2132590	0.89[ASN][1000 genomes]
rs2278459	0.85[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap]
rs2279700	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2279701	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2291786	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2291787	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]
rs2403083	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2403084	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2403085	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2403086	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2403088	0.85[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs2403104	0.86[JPT][hapmap];0.86[TSI][hapmap]
rs28374336	0.82[ASN][1000 genomes]
rs28377260	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28439950	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28564613	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28677919	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2896452	0.85[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs2896454	0.95[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs34103685	0.95[JPT][hapmap];0.96[MEX][hapmap]
rs35558766	0.82[ASN][1000 genomes]
rs3779899	0.95[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs3779901	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808538	0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs3808539	0.86[JPT][hapmap]
rs4150867	0.95[JPT][hapmap]
rs4150868	0.95[JPT][hapmap]
rs4150869	0.90[JPT][hapmap]
rs4150893	0.81[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4150897	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4150909	0.83[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.82[ASN][1000 genomes]
rs4150942	0.85[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes]
rs4150944	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4150962	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4150964	0.87[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4150974	0.87[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4150977	0.86[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4609189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4617148	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4739698	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4739700	0.83[CHB][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap]
rs4740043	0.81[JPT][hapmap]
rs4740044	0.83[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs4740045	0.93[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];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4740047	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4740049	0.86[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]
rs6605610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6605611	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6605613	0.82[ASN][1000 genomes]
rs6605624	0.85[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs6987641	0.80[ASN][1000 genomes]
rs6990449	0.93[JPT][hapmap]
rs6993316	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6993387	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs6994113	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7001359	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7004871	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7008772	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs7011001	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7011926	0.86[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]
rs7015758	0.95[JPT][hapmap]
rs7818163	0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs7821629	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826589	0.81[JPT][hapmap]
rs7827175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7829050	0.95[JPT][hapmap]
rs7829144	0.85[JPT][hapmap];0.92[MEX][hapmap]
rs7829240	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839129	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7841142	0.85[JPT][hapmap];0.83[MEX][hapmap]
rs903895	0.86[JPT][hapmap]
rs903896	0.86[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]
rs903897	0.86[JPT][hapmap]
rs9329908	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9987281	0.82[JPT][hapmap]

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	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2761441	chr8:86155592-86167129	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs17740658	LRRCC1	cis	normal skin	skin_eQTL
rs17740658	LRRCC1	cis	Artery Tibial	GTEx
rs17740658	CA13	cis	Lymphoblastoid	GTEx
rs17740658	LRRCC1	cis	parietal	SCAN
rs17740658	CA13	cis	multi-tissue	Pritchard
rs17740658	CA13	cis	cerebellum	SCAN
rs17740658	LRRCC1	cis	cerebellum	SCAN
rs17740658	LRRCC1	cis	Esophagus Mucosa	GTEx
rs17740658	C8orf59	cis	parietal	SCAN
rs17740658	CA13	cis	lymphoblastoid	seeQTL
rs17740658	C8orf59	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86157000-86158400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr8:86157000-86158400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr8:86157000-86158600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:86157000-86158800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:86157200-86158400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:86157200-86158400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:86157200-86158400	Active TSS	Brain Hippocampus Middle	brain
8	chr8:86157200-86158600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr8:86157200-86158600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:86157200-86158600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr8:86157200-86158600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:86157200-86158600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:86157200-86158600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr8:86157200-86158600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr8:86157200-86158600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:86157200-86158600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr8:86157200-86158600	Bivalent/Poised TSS	A549	lung
18	chr8:86157200-86158800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:86157200-86158800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr8:86157200-86158800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:86157200-86158800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:86157200-86158800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:86157200-86158800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:86157200-86158800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:86157200-86158800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:86157200-86158800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr8:86157200-86158800	Active TSS	Psoas Muscle	Psoas
28	chr8:86157200-86159000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:86157200-86159000	Active TSS	NHEK	skin
30	chr8:86157400-86158400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
31	chr8:86157400-86158400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr8:86157400-86158400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
33	chr8:86157400-86158400	Active TSS	Brain Substantia Nigra	brain
34	chr8:86157400-86158400	Active TSS	Gastric	stomach
35	chr8:86157400-86158400	Flanking Bivalent TSS/Enh	Dnd41	blood
36	chr8:86157400-86158600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:86157400-86158600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr8:86157400-86158600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:86157400-86158600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:86157400-86158600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:86157400-86158600	Active TSS	Brain Cingulate Gyrus	brain
42	chr8:86157400-86158600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:86157400-86158600	Active TSS	Ovary	ovary
44	chr8:86157400-86158800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr8:86157400-86158800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr8:86157400-86158800	Active TSS	Right Atrium	heart
47	chr8:86157400-86158800	Active TSS	HSMM	muscle
48	chr8:86157600-86158400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:86157600-86158400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:86157600-86158400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links