Variant report

Variant	rs510423
Chromosome Location	chr6:70965827-70965828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10806630	1.00[JPT][hapmap]
rs10945202	1.00[JPT][hapmap]
rs10945205	0.91[ASN][1000 genomes]
rs10945206	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1135056	0.92[CEU][hapmap];0.94[GIH][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs11757395	0.88[ASN][1000 genomes]
rs12153874	0.88[ASN][1000 genomes]
rs12153902	0.96[ASN][1000 genomes]
rs12154117	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12191701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12191702	1.00[JPT][hapmap]
rs12192237	1.00[JPT][hapmap]
rs12195968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12201626	1.00[JPT][hapmap]
rs12204438	1.00[JPT][hapmap]
rs12209857	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12210719	1.00[JPT][hapmap]
rs12210870	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12211880	1.00[JPT][hapmap]
rs12213613	0.96[ASN][1000 genomes]
rs1711729	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076816	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs2176356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs45464198	0.91[ASN][1000 genomes]
rs506908	0.92[CEU][hapmap];0.97[EUR][1000 genomes]
rs534258	0.97[EUR][1000 genomes]
rs535308	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs555663	0.92[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs558181	0.92[CEU][hapmap];0.97[EUR][1000 genomes]
rs590656	0.92[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes]
rs59322080	0.96[ASN][1000 genomes]
rs6922941	0.96[ASN][1000 genomes]
rs6923114	0.91[ASN][1000 genomes]
rs6932776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs701688	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs701689	0.92[CEU][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs701690	0.91[EUR][1000 genomes]
rs72923164	0.91[ASN][1000 genomes]
rs72923166	0.91[ASN][1000 genomes]
rs7741471	0.87[ASN][1000 genomes]
rs7759110	0.96[ASN][1000 genomes]
rs9354910	1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933674	chr6:70663616-70973112	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70952200-70980400	Weak transcription	Fetal Stomach	stomach
2	chr6:70952200-70990000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:70952600-70966600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:70952600-70980400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:70952800-70989800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:70955200-70971000	Weak transcription	Fetal Kidney	kidney
7	chr6:70961200-70968000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:70962000-70983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:70965200-70991600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:70965400-70969200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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