Variant report

Variant	rs7686861
Chromosome Location	chr4:74998484-74998485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74903212..74905934-chr4:74998158..75001243,4	K562	blood:
2	chr4:74963512..74965298-chr4:74998131..75000514,2	K562	blood:

Variant related genes	Relation type
ENSG00000081041	Chromatin interaction
ENSG00000163734	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10938107	0.91[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs11733208	0.83[CEU][hapmap]
rs12642974	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs13124617	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13128896	0.91[ASN][1000 genomes]
rs1371794	0.81[EUR][1000 genomes]
rs1371798	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1371799	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1837559	0.83[CEU][hapmap]
rs1866755	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3806792	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4121652	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs491641	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs518867	0.81[EUR][1000 genomes]
rs546829	0.81[EUR][1000 genomes]
rs549280	0.93[EUR][1000 genomes]
rs72652934	0.92[EUR][1000 genomes]
rs7667376	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs882638	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9131	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs981458	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7686861	G3BP2	cis	parietal	SCAN
rs7686861	UTP3	cis	parietal	SCAN
rs7686861	CXCL6	cis	parietal	SCAN
rs7686861	CCNG2	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74988400-74999600	Weak transcription	NHEK	skin
2	chr4:74989400-74999600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:74993400-74999000	Weak transcription	HMEC	breast
4	chr4:74995400-74999600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:74996200-74999600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:74998200-74999400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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