Variant report

Variant	rs3746337
Chromosome Location	chr20:25208272-25208273
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	MAZ	chr20:25208152-25208336	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr20:25207993-25208310	HepG2	liver:	n/a	n/a
3	MAX	chr20:25207530-25208418	HepG2	liver:	n/a	chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207841-25207854 chr20:25207842-25207853 chr20:25207842-25207852 chr20:25207843-25207852 chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207842-25207852
4	POLR2A	chr20:25208134-25208465	K562	blood:	n/a	n/a
5	RFX5	chr20:25207934-25208421	Hela-S3	cervix:	n/a	n/a
6	SRF	chr20:25207811-25208291	HepG2	liver:	n/a	chr20:25208055-25208073 chr20:25208122-25208132
7	EP300	chr20:25207898-25208312	K562	blood:	n/a	chr20:25208066-25208076
8	EP300	chr20:25207748-25208314	HepG2	liver:	n/a	chr20:25208066-25208076
9	MBD4	chr20:25207423-25208603	HepG2	liver:	n/a	n/a
10	SRF	chr20:25207695-25208465	HCT-116	colon:	n/a	chr20:25208055-25208073 chr20:25208122-25208132
11	USF1	chr20:25208016-25208315	K562	blood:	n/a	n/a
12	FOXA1	chr20:25207827-25208281	HepG2	liver:	n/a	n/a
13	TAL1	chr20:25207875-25208319	K562	blood:	n/a	n/a
14	MAX	chr20:25207499-25208623	HepG2	liver:	n/a	chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207841-25207854 chr20:25207842-25207853 chr20:25207842-25207852 chr20:25207843-25207852 chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207842-25207852
15	TEAD4	chr20:25207908-25208370	K562	blood:	n/a	n/a
16	MAFK	chr20:25207855-25208480	K562	blood:	n/a	n/a
17	POLR2A	chr20:25207976-25208547	HepG2	liver:	n/a	n/a
18	POLR2A	chr20:25207573-25208492	HepG2	liver:	n/a	n/a
19	FOXA2	chr20:25207766-25208340	HepG2	liver:	n/a	n/a
20	BHLHE40	chr20:25207915-25208435	HepG2	liver:	n/a	n/a
21	MYC	chr20:25207707-25208391	MCF10A-Er-Src	breast:	n/a	chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207841-25207854 chr20:25207842-25207853 chr20:25207842-25207852 chr20:25207843-25207852 chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207842-25207852
22	HDAC2	chr20:25207656-25208482	HepG2	liver:	n/a	chr20:25208347-25208366
23	USF1	chr20:25207625-25208369	ECC-1	luminal epithelium:	n/a	chr20:25207841-25207852
24	JUN	chr20:25207881-25208311	Hela-S3	cervix:	n/a	chr20:25208048-25208061 chr20:25208288-25208299 chr20:25208148-25208160
25	CCNT2	chr20:25207834-25208312	K562	blood:	n/a	n/a
26	MAX	chr20:25207578-25208423	SK-N-SH	brain:	n/a	chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207841-25207854 chr20:25207842-25207853 chr20:25207842-25207852 chr20:25207843-25207852 chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207842-25207852
27	FOSL2	chr20:25207406-25208588	HepG2	liver:	n/a	chr20:25208288-25208299 chr20:25208148-25208160
28	POLR2A	chr20:25208124-25208421	MCF-7	breast:	n/a	n/a
29	RFX5	chr20:25208095-25208287	HepG2	liver:	n/a	n/a
30	NFIC	chr20:25207555-25208487	SK-N-SH	brain:	n/a	n/a
31	TEAD4	chr20:25207781-25208696	HepG2	liver:	n/a	n/a
32	NFIC	chr20:25207758-25208359	HepG2	liver:	n/a	n/a
33	TEAD4	chr20:25207818-25208402	ECC-1	luminal epithelium:	n/a	n/a
34	JUN	chr20:25207851-25208307	K562	blood:	n/a	chr20:25208048-25208061 chr20:25208288-25208299 chr20:25208148-25208160
35	MAX	chr20:25207517-25208432	ECC-1	luminal epithelium:	n/a	chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207841-25207854 chr20:25207842-25207853 chr20:25207842-25207852 chr20:25207843-25207852 chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207842-25207852
36	POLR2A	chr20:25208266-25208496	A549	lung:	n/a	n/a
37	TCF12	chr20:25207758-25208540	ECC-1	luminal epithelium:	n/a	n/a
38	MYBL2	chr20:25207762-25208443	HepG2	liver:	n/a	n/a
39	JUND	chr20:25207713-25208384	K562	blood:	n/a	chr20:25208288-25208299 chr20:25208148-25208160
40	POLR2A	chr20:25208263-25208513	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAFK	chr20:25207780-25208278	Hela-S3	cervix:	n/a	n/a
42	PBX3	chr20:25207936-25208353	SK-N-SH	brain:	n/a	n/a
43	MXI1	chr20:25207407-25208619	SK-N-SH	brain:	n/a	chr20:25207842-25207851 chr20:25207844-25207853
44	POLR2A	chr20:25208164-25208542	A549	lung:	n/a	n/a
45	NFIC	chr20:25207498-25208447	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr20:25207651-25208650	PANC-1	pancreas:	n/a	n/a
47	SRF	chr20:25207739-25208475	HCT-116	colon:	n/a	chr20:25208055-25208073 chr20:25208122-25208132
48	MAX	chr20:25207308-25208662	HepG2	liver:	n/a	chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207841-25207854 chr20:25207842-25207853 chr20:25207842-25207852 chr20:25207843-25207852 chr20:25207842-25207853 chr20:25207843-25207852 chr20:25207842-25207852
49	SRF	chr20:25207765-25208502	ECC-1	luminal epithelium:	n/a	chr20:25208055-25208073 chr20:25208122-25208132
50	BCL3	chr20:25207600-25208421	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25176141..25177768-chr20:25206257..25208862,2	MCF-7	breast:
2	chr20:25204544..25206460-chr20:25206464..25208599,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268302	TF binding region
ENSG00000197586	Chromatin interaction

Extended variants
information (count: 170 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs1007707	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs1007708	0.80[ASN][1000 genomes]
rs1044573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1046073	0.85[CEU][hapmap]
rs1077889	0.80[ASN][1000 genomes]
rs11087505	0.80[ASN][1000 genomes]
rs11100	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1118963	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1130694	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs11698185	0.86[JPT][hapmap]
rs11699953	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13038092	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1473695	0.86[JPT][hapmap]
rs1555330	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888997	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs1888999	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2145126	0.80[ASN][1000 genomes]
rs2227890	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2227892	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2257233	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2257432	0.80[ASN][1000 genomes]
rs2257461	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2257464	0.80[ASN][1000 genomes]
rs2257705	0.85[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2257712	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2257808	0.80[ASN][1000 genomes]
rs2257809	0.80[ASN][1000 genomes]
rs2257982	0.80[ASN][1000 genomes]
rs2257985	0.80[ASN][1000 genomes]
rs2257991	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2258066	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2258135	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs2258201	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2258617	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2258719	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2258728	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2258769	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2259837	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2260997	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.90[ASN][1000 genomes]
rs2261109	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2261115	0.80[ASN][1000 genomes]
rs2261698	0.80[ASN][1000 genomes]
rs2261720	0.80[ASN][1000 genomes]
rs2261747	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2261753	0.80[ASN][1000 genomes]
rs2261784	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2261785	0.80[ASN][1000 genomes]
rs2261790	0.80[ASN][1000 genomes]
rs2261794	0.80[ASN][1000 genomes]
rs2268879	1.00[JPT][hapmap]
rs2273473	0.81[EUR][1000 genomes]
rs2297496	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2297497	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2387881	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2424698	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424699	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2424700	0.80[ASN][1000 genomes]
rs2424704	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2474766	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474769	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474777	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.80[ASN][1000 genomes]
rs2482911	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2482923	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2482927	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2482931	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2482943	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2500399	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2500405	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2500406	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs2500424	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2500432	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2500433	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2500436	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2500446	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs3002702	0.80[ASN][1000 genomes]
rs33999482	0.80[ASN][1000 genomes]
rs3761117	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs4619688	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813562	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs4815411	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs4815412	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs4815417	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6037062	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6037069	0.95[ASN][1000 genomes]
rs6037095	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6037097	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6037103	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6037105	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050425	1.00[JPT][hapmap]
rs6050427	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs6050431	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs6050439	0.80[ASN][1000 genomes]
rs6050442	0.80[ASN][1000 genomes]
rs6050445	0.80[ASN][1000 genomes]
rs6050463	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050464	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6050472	0.84[ASN][1000 genomes]
rs6050477	1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs6050481	0.88[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050482	0.95[ASN][1000 genomes]
rs6050513	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6050515	0.85[JPT][hapmap]
rs6050532	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6050544	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6050559	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050561	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050565	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050567	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050573	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050590	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6050598	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6050599	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6076336	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6083776	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs6083804	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6083805	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6083809	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6083818	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6083828	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6083853	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs6107015	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6107017	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6107019	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6107031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6115093	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115094	0.88[CEU][hapmap];0.82[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115100	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115101	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115109	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115140	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs6115159	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6132819	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132820	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132821	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132822	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6132824	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138537	0.86[JPT][hapmap]
rs6138545	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6138546	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138550	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138553	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138554	0.81[AMR][1000 genomes]
rs6138555	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7020	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7267979	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs7453	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8115257	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8124539	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs8184820	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910996	0.80[ASN][1000 genomes]
rs910997	0.80[ASN][1000 genomes]
rs9927	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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 target site	53 gene(s)	inside rSNPs	diseases
7	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs3746337	ABHD12	cis	Cerebellum	GTEx
rs3746337	NINL	cis	parietal	SCAN
rs3746337	GINS1	Cis_1M	lymphoblastoid	RTeQTL
rs3746337	ABHD12	Cis_1M	lymphoblastoid	RTeQTL
rs3746337	ABHD12	cis	cerebellum	SCAN
rs3746337	ABHD12	cis	multi-tissue	Pritchard
rs3746337	ABHD12	cis	Temporal Cortex	GTEx
rs3746337	ABHD12	cis	brain	seeQTL
rs3746337	GINS1	cis	parietal	SCAN
rs3746337	ABHD12	cis	lymphoblastoid	seeQTL
rs3746337	PYGB	cis	lymphoblastoid	seeQTL
rs3746337	ABHD12	cis	Frontal Cortex	GTEx
rs3746337	PYGB	cis	cerebellum	SCAN
rs3746337	PYGB	cis	Whole Blood	GTEx
rs3746337	NINL	cis	cerebellum	SCAN
rs3746337	HDHD4	cis	multi-tissue	Pritchard
rs3746337	PYGB	cis	Lymphoblastoid	GTEx
rs3746337	DCLRE1C	trans	multi-tissue	Pritchard
rs3746337	ABHD12	cis	Brain Pons	GTEx
rs3746337	PYGB	cis	multi-tissue	Pritchard
rs3746337	ABHD12	trans	brain	seeQTL
rs3746337	C20orf22	cis	multi-tissue	Pritchard

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25178600-25212200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr20:25190600-25208400	Strong transcription	Thymus	Thymus
3	chr20:25193400-25210800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr20:25196800-25210400	Weak transcription	GM12878-XiMat	blood
5	chr20:25198000-25214000	Weak transcription	Fetal Lung	lung
6	chr20:25198400-25212200	Enhancers	Fetal Heart	heart
7	chr20:25199000-25212600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr20:25199200-25208600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:25199200-25210600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr20:25199200-25212000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr20:25199400-25210600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr20:25202200-25209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr20:25204200-25208400	Strong transcription	Primary T cells from cord blood	blood
14	chr20:25204200-25208600	Strong transcription	Fetal Intestine Large	intestine
15	chr20:25204200-25213800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:25204200-25222800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr20:25204400-25209200	Strong transcription	Fetal Intestine Small	intestine
18	chr20:25204400-25218200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr20:25204800-25210400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:25204800-25213600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr20:25205600-25208600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr20:25206200-25209200	Enhancers	Left Ventricle	heart
23	chr20:25206200-25211400	Enhancers	Right Atrium	heart
24	chr20:25206400-25208600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:25206400-25208600	Enhancers	Liver	Liver
26	chr20:25206400-25210000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr20:25206600-25208400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr20:25206600-25208400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr20:25206600-25209200	Enhancers	Pancreas	Pancrea
30	chr20:25206600-25214000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr20:25206800-25208600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr20:25206800-25208600	Enhancers	Esophagus	oesophagus
33	chr20:25206800-25209200	Enhancers	Fetal Muscle Leg	muscle
34	chr20:25206800-25212800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr20:25206800-25218200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr20:25207000-25208400	Enhancers	Stomach Mucosa	stomach
37	chr20:25207000-25208600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr20:25207000-25210200	Weak transcription	Fetal Brain Female	brain
39	chr20:25207200-25208400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr20:25207200-25208600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr20:25207200-25208600	Enhancers	Gastric	stomach
42	chr20:25207200-25208600	Enhancers	Lung	lung
43	chr20:25207200-25208600	Enhancers	Rectal Smooth Muscle	rectum
44	chr20:25207200-25208600	Enhancers	HMEC	breast
45	chr20:25207200-25208600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr20:25207200-25209200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr20:25207200-25209400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:25207200-25210800	Enhancers	Right Ventricle	heart
49	chr20:25207200-25212600	Weak transcription	Brain Germinal Matrix	brain
50	chr20:25207200-25213800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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