Variant report

Variant	rs6919571
Chromosome Location	chr6:36386464-36386465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36386192..36388586-chr6:36389623..36392544,5	K562	blood:
2	chr6:36351929..36354847-chr6:36386125..36388786,2	MCF-7	breast:
3	chr6:36379225..36383506-chr6:36385017..36389096,5	K562	blood:
4	chr6:36385781..36389716-chr6:36561820..36563529,3	MCF-7	breast:
5	chr6:36384824..36387728-chr6:36409313..36412170,3	K562	blood:
6	chr6:36384943..36388342-chr6:36562138..36564282,3	K562	blood:
7	chr6:36386375..36388666-chr6:36396163..36398250,2	K562	blood:

Variant related genes	Relation type
ENSG00000179165	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000224666	Chromatin interaction
ENSG00000112078	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1003250	0.83[CHD][hapmap]
rs10440841	0.83[YRI][hapmap]
rs1076928	0.96[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1076929	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs11757823	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13210133	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2071809	0.85[CHB][hapmap];0.83[CHD][hapmap]
rs2145749	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2187810	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2234064	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2234071	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3798480	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4295471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308555	0.86[JPT][hapmap]
rs522179	0.94[AFR][1000 genomes]
rs544267	0.83[YRI][hapmap]
rs56077076	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs566742	0.82[ASW][hapmap];0.83[CHD][hapmap];0.94[LWK][hapmap];0.92[MKK][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs584418	0.80[AFR][1000 genomes]
rs595954	0.83[CHD][hapmap]
rs597153	0.80[AFR][1000 genomes]
rs629297	0.83[AFR][1000 genomes]
rs664370	0.82[ASW][hapmap];0.83[CHD][hapmap];0.97[LWK][hapmap];0.92[MKK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs6905318	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6906885	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6923993	0.83[CHD][hapmap]
rs6928048	0.85[JPT][hapmap]
rs6931970	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755006	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7765868	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7766404	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7771459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881647	0.81[EUR][1000 genomes]
rs9296180	0.88[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[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296182	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9357212	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357213	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366904	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368924	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9368926	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9368928	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368929	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368930	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368936	0.85[CHB][hapmap]
rs9380569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394350	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462182	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9470270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470274	0.83[YRI][hapmap]
rs9470278	0.82[ASW][hapmap];0.85[CHD][hapmap];0.94[LWK][hapmap];0.92[MKK][hapmap];0.83[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6919571	ETV7	cis	Whole Blood	GTEx
rs6919571	TULP1	cis	cerebellum	SCAN
rs6919571	ETV7	cis	lung	GTEx
rs6919571	SLC26A8	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36382800-36390200	Weak transcription	Fetal Intestine Small	intestine
2	chr6:36382800-36390600	Weak transcription	HUVEC	blood vessel
3	chr6:36386000-36388200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:36386000-36388400	Enhancers	Hela-S3	cervix
5	chr6:36386200-36386600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:36386200-36386600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:36386200-36387000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:36386200-36387800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:36386200-36387800	Enhancers	HMEC	breast
10	chr6:36386200-36387800	Enhancers	NHEK	skin
11	chr6:36386200-36388000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:36386400-36386600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:36386400-36386800	Enhancers	Esophagus	oesophagus
14	chr6:36386400-36386800	Enhancers	Placenta	Placenta
15	chr6:36386400-36386800	Bivalent Enhancer	HepG2	liver

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