Variant report

Variant	rs863215
Chromosome Location	chr5:79948005-79948006
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	CEBPD	chr5:79946239-79948298	K562	blood:	n/a	n/a
2	WRNIP1	chr5:79947962-79948009	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:79946538-79948217	K562	blood:	n/a	n/a
4	POLR2A	chr5:79946384-79948213	SK-N-MC	brain:	n/a	n/a
5	PAX5	chr5:79946195-79948114	GM12878	blood:	n/a	chr5:79948078-79948105
6	FOSL2	chr5:79946232-79948222	HepG2	liver:	n/a	chr5:79947812-79947821 chr5:79947810-79947822 chr5:79947813-79947824 chr5:79947811-79947821 chr5:79947811-79947820
7	FOS	chr5:79947644-79948006	MCF10A-Er-Src	breast:	n/a	chr5:79947812-79947821 chr5:79947810-79947822 chr5:79947813-79947824 chr5:79947811-79947821 chr5:79947811-79947820
8	SP1	chr5:79945672-79948207	HepG2	liver:	n/a	chr5:79947822-79947831 chr5:79947730-79947740 chr5:79947730-79947740
9	POLR2A	chr5:79945655-79948247	GM12878	blood:	n/a	n/a
10	REST	chr5:79946254-79948032	H1-hESC	embryonic stem cell:	n/a	n/a
11	HEY1	chr5:79945715-79948243	HepG2	liver:	n/a	n/a
12	TCF12	chr5:79946248-79948214	HepG2	liver:	n/a	n/a
13	TAF1	chr5:79946253-79948184	GM12878	blood:	n/a	n/a
14	ZBTB33	chr5:79945780-79948204	HepG2	liver:	n/a	n/a
15	TAF1	chr5:79946248-79948188	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr5:79946210-79948201	Hela-S3	cervix:	n/a	n/a
17	POU2F2	chr5:79945646-79948217	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:79945507-79948472	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZBTB33	chr5:79945767-79948215	GM12878	blood:	n/a	n/a
20	SIX5	chr5:79945746-79948192	K562	blood:	n/a	chr5:79945909-79945918
21	ZBTB33	chr5:79945772-79948202	K562	blood:	n/a	n/a
22	EBF1	chr5:79946246-79948218	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:79945761-79948285	Hela-S3	cervix:	n/a	n/a
24	ZBTB33	chr5:79945768-79948209	K562	blood:	n/a	n/a
25	HEY1	chr5:79946189-79948242	HepG2	liver:	n/a	n/a
26	TCF12	chr5:79946252-79948229	GM12878	blood:	n/a	n/a
27	SP1	chr5:79945687-79948280	GM12878	blood:	n/a	chr5:79947822-79947831 chr5:79947730-79947740 chr5:79947730-79947740
28	PBX3	chr5:79947911-79948164	GM12878	blood:	n/a	n/a
29	ZBTB33	chr5:79945778-79948206	GM12878	blood:	n/a	n/a
30	GATA2	chr5:79946164-79948199	K562	blood:	n/a	n/a
31	FOS	chr5:79947645-79948005	MCF10A-Er-Src	breast:	n/a	chr5:79947812-79947821 chr5:79947810-79947822 chr5:79947813-79947824 chr5:79947811-79947821 chr5:79947811-79947820
32	PAX5	chr5:79946262-79948174	GM12878	blood:	n/a	chr5:79948078-79948105
33	E2F4	chr5:79947816-79948010	MCF10A-Er-Src	breast:	n/a	n/a
34	SPI1	chr5:79947911-79948014	GM12878	blood:	n/a	n/a
35	FOSL2	chr5:79945717-79948224	HepG2	liver:	n/a	chr5:79947812-79947821 chr5:79947810-79947822 chr5:79947813-79947824 chr5:79947811-79947821 chr5:79947811-79947820
36	JUND	chr5:79947909-79948162	HepG2	liver:	n/a	n/a
37	RXRA	chr5:79946197-79948254	HepG2	liver:	n/a	chr5:79946282-79946289 chr5:79947115-79947128 chr5:79947111-79947131
38	ZBTB33	chr5:79947895-79948046	HepG2	liver:	n/a	n/a
39	SIX5	chr5:79946238-79948224	K562	blood:	n/a	n/a
40	BCL11A	chr5:79947896-79948213	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:79947645-79948138	Hela-S3	cervix:	n/a	n/a
42	POU2F2	chr5:79947164-79948180	GM12878	blood:	n/a	n/a
43	SIX5	chr5:79946172-79948220	GM12878	blood:	n/a	n/a
44	BCL11A	chr5:79946239-79948230	GM12878	blood:	n/a	n/a
45	EP300	chr5:79947904-79948199	GM12878	blood:	n/a	n/a
46	POLR2A	chr5:79947893-79948120	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr5:79947476-79948393	K562	blood:	n/a	n/a
48	SIN3AK20	chr5:79946246-79948184	HepG2	liver:	n/a	n/a
49	FOXM1	chr5:79945605-79948472	GM12878	blood:	n/a	n/a
50	PAX5	chr5:79946244-79948218	GM12878	blood:	n/a	chr5:79948078-79948105

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79702114..79706204-chr5:79947823..79953616,8	MCF-7	breast:

Variant related genes	Relation type
MSH3	TF binding region
MTRNR2L2	TF binding region
ENSG00000039319	Chromatin interaction

Extended variants
information (count: 213 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:210)

rs_ID	r²[population]
rs10168	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950480	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11951910	1.00[JPT][hapmap]
rs11952744	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1222809	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1232027	1.00[JPT][hapmap]
rs13161245	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185915	0.83[EUR][1000 genomes]
rs1346463	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs1346464	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs1382539	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1382540	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1382541	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1382542	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1382543	0.95[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1478834	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1478835	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1620258	0.85[EUR][1000 genomes]
rs1623489	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1628627	0.89[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1631572	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1643634	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643635	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1643636	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643637	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1643638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643639	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643641	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643643	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1643644	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643645	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1643646	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643647	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643648	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643650	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643651	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1643652	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643653	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643655	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643657	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643658	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643659	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643660	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643661	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1643662	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643664	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650648	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs1650650	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650651	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650652	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650653	0.95[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650654	0.95[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650655	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650656	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1650657	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650658	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650659	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650661	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650662	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650663	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650664	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650665	0.95[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650666	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650667	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650668	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650670	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650671	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650674	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650675	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650676	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650677	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650678	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650679	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650680	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650681	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650682	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650683	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650685	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1650688	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1650692	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650693	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650694	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1650695	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650696	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650707	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650710	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650711	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650712	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650713	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650715	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650718	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650747	0.85[EUR][1000 genomes]
rs1650749	0.85[EUR][1000 genomes]
rs1650750	0.84[EUR][1000 genomes]
rs1677623	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677625	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677626	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677628	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677629	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677630	0.85[EUR][1000 genomes]
rs1677633	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677634	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677635	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677636	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677638	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677639	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677640	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677641	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677642	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677643	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677644	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677645	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677647	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677648	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677649	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677650	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677652	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs1677653	0.89[CEU][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs1677654	0.85[EUR][1000 genomes]
rs1677655	0.84[EUR][1000 genomes]
rs1677666	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677667	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677670	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677676	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1677680	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677682	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677683	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1677684	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677685	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677686	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677687	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677688	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677689	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677690	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1677691	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677692	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1677693	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677694	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677695	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677696	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677698	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677700	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677701	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677702	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677703	0.95[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677704	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677706	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677707	0.85[EUR][1000 genomes]
rs1677708	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1677709	0.85[EUR][1000 genomes]
rs1824837	0.95[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1824838	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1824839	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2250063	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405880	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs249209	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs2560423	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2560424	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618369	0.85[EUR][1000 genomes]
rs2618372	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897262	0.95[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56147256	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56357417	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57771284	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58063248	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58490646	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59117994	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60244599	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151613	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6151614	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6151615	0.89[CEU][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6151618	0.94[CEU][hapmap]
rs6151619	0.95[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6151620	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6151632	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6151633	0.87[AMR][1000 genomes]
rs67837398	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71578847	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73765838	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73765839	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7387	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836798	0.85[EUR][1000 genomes]
rs836799	0.85[EUR][1000 genomes]
rs836800	0.85[EUR][1000 genomes]
rs836801	0.82[EUR][1000 genomes]
rs836802	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs836804	0.85[EUR][1000 genomes]
rs836806	0.89[CEU][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs836808	0.83[CEU][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs836809	0.85[EUR][1000 genomes]
rs836810	0.85[EUR][1000 genomes]
rs836813	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs836818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836820	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs836821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836823	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844368	0.84[EUR][1000 genomes]
rs844370	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs857016	0.85[EUR][1000 genomes]
rs861372	0.85[EUR][1000 genomes]
rs861373	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs863214	0.93[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs864133	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865645	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs865646	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs865647	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966762	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv10709	chr5:79945799-79948875	Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv12895	chr5:79945853-79948255	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs863215	DHFR	cis	Heart Left Ventricle	GTEx
rs863215	RASGRF2	cis	cerebellum	SCAN
rs863215	MSH3	cis	cerebellum	SCAN
rs863215	DHFR	cis	Muscle Skeletal	GTEx
rs863215	DHFR///LOC643509	Cis_1M	lymphoblastoid	RTeQTL
rs863215	ANKRD34B	cis	Whole Blood	GTEx
rs863215	DHFR	cis	Adipose Subcutaneous	GTEx
rs863215	MSH3	cis	Whole Blood	GTEx
rs863215	MSH3	cis	Thyroid	GTEx
rs863215	DHFRL1	trans	lymphoblastoid	seeQTL
rs863215	DHFR	cis	Whole Blood	GTEx
rs863215	MSH3	cis	parietal	SCAN
rs863215	DHFR	cis	Esophagus Muscularis	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79906600-79949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:79913200-79949000	Weak transcription	Spleen	Spleen
3	chr5:79913600-79949400	Weak transcription	Esophagus	oesophagus
4	chr5:79914200-79949400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:79915400-79949200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:79916600-79949400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:79919600-79949200	Weak transcription	Colonic Mucosa	Colon
8	chr5:79919600-79949800	Weak transcription	Pancreas	Pancrea
9	chr5:79919800-79949000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:79920200-79949000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:79920200-79949000	Weak transcription	Stomach Mucosa	stomach
12	chr5:79923600-79949800	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:79924200-79949200	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:79924200-79949400	Weak transcription	Right Ventricle	heart
15	chr5:79924200-79949800	Weak transcription	Left Ventricle	heart
16	chr5:79924400-79949200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:79925200-79948400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:79925200-79948600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:79925600-79949600	Weak transcription	HSMMtube	muscle
20	chr5:79928600-79949200	Weak transcription	NH-A	brain
21	chr5:79929000-79949800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:79929200-79949200	Weak transcription	Fetal Brain Male	brain
23	chr5:79929400-79949400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:79931400-79949200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:79934200-79949600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:79935600-79948800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:79935600-79949400	Weak transcription	Brain Angular Gyrus	brain
28	chr5:79936400-79949000	Weak transcription	Fetal Kidney	kidney
29	chr5:79936800-79949200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:79937000-79949400	Weak transcription	Small Intestine	intestine
31	chr5:79937000-79950000	Weak transcription	Ovary	ovary
32	chr5:79937200-79949000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:79937200-79949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:79937200-79949400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:79937400-79949200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:79937600-79949000	Weak transcription	NHLF	lung
37	chr5:79937600-79949400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:79937800-79949800	Weak transcription	Lung	lung
39	chr5:79937800-79949800	Weak transcription	Psoas Muscle	Psoas
40	chr5:79938200-79949000	Weak transcription	HepG2	liver
41	chr5:79938600-79949200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:79940400-79949200	Weak transcription	Fetal Lung	lung
43	chr5:79940600-79949200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:79940800-79948600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:79941800-79948800	Weak transcription	Fetal Heart	heart
46	chr5:79942000-79949200	Weak transcription	Primary B cells from cord blood	blood
47	chr5:79943000-79949200	Weak transcription	Brain Anterior Caudate	brain
48	chr5:79943400-79949000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:79943400-79949200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:79944000-79949200	Weak transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

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