Variant report

Variant	rs6980625
Chromosome Location	chr8:39136231-39136232
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	chr8:39130457..39132494-chr8:39133684..39136395,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10088174	0.94[EUR][1000 genomes]
rs10088458	0.83[CEU][hapmap]
rs10093393	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10094572	0.81[CHB][hapmap];0.87[TSI][hapmap]
rs10095244	0.82[CHB][hapmap];0.87[TSI][hapmap]
rs10106195	0.80[JPT][hapmap]
rs10111607	0.81[CHB][hapmap]
rs10808920	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10958543	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11775433	0.87[JPT][hapmap];0.87[TSI][hapmap]
rs11776234	1.00[CEU][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11777253	0.85[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11781014	0.82[CHB][hapmap];0.87[TSI][hapmap]
rs11786406	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11786558	0.81[CHB][hapmap]
rs12675132	0.94[CEU][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12679074	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12682638	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13439327	0.80[JPT][hapmap]
rs13439696	0.80[JPT][hapmap];0.87[TSI][hapmap]
rs13439859	0.87[JPT][hapmap];0.87[TSI][hapmap]
rs28460316	0.94[EUR][1000 genomes]
rs28649569	0.93[EUR][1000 genomes]
rs28795368	0.95[EUR][1000 genomes]
rs4128223	0.94[EUR][1000 genomes]
rs4133177	0.80[JPT][hapmap];0.87[TSI][hapmap]
rs4133178	0.80[JPT][hapmap];0.87[TSI][hapmap]
rs4316117	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4513935	0.80[JPT][hapmap]
rs4515515	0.95[CEU][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4537270	0.87[TSI][hapmap]
rs4585712	0.80[JPT][hapmap];0.87[TSI][hapmap]
rs4585713	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4587293	0.87[JPT][hapmap]
rs4733912	0.93[EUR][1000 genomes]
rs4733913	0.95[CEU][hapmap];0.93[JPT][hapmap]
rs4733994	0.95[CEU][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55817221	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57822948	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58036010	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6474126	0.89[CEU][hapmap];0.93[JPT][hapmap];0.96[EUR][1000 genomes]
rs6981906	0.82[CHB][hapmap]
rs6988280	0.87[CEU][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6989252	0.95[CEU][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes]
rs6992204	0.86[TSI][hapmap]
rs7001103	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7013701	0.94[EUR][1000 genomes]
rs7016661	0.95[CEU][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs72500200	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73608630	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73608634	0.93[EUR][1000 genomes]
rs73608636	0.94[EUR][1000 genomes]
rs7464434	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7816763	0.92[EUR][1000 genomes]
rs7843696	0.82[CHB][hapmap]
rs7843723	0.87[EUR][1000 genomes]
rs7843946	0.96[EUR][1000 genomes]
rs7845676	0.82[CHB][hapmap];0.87[TSI][hapmap]
rs9801845	0.94[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015907	chr8:38967169-39718559	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv539550	chr8:38967169-39718559	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1027443	chr8:38993423-39181079	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539551	chr8:38993423-39181079	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv428198	chr8:39069309-39405724	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1019752	chr8:39087542-39371410	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1798122	chr8:39101565-39405724	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1809741	chr8:39101565-39405724	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv1815710	chr8:39101565-39405724	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1827982	chr8:39101565-39405724	ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1829387	chr8:39101565-39405724	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1845167	chr8:39101565-39405724	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv1845068	chr8:39120649-39452805	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6980625	ASH2L	cis	parietal	SCAN
rs6980625	TM2D2	cis	cerebellum	SCAN
rs6980625	TM2D2	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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