Variant report

Variant	rs2274586
Chromosome Location	chr6:70961745-70961746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10806631	0.82[EUR][1000 genomes]
rs10806632	0.82[EUR][1000 genomes]
rs10945206	0.87[EUR][1000 genomes]
rs10945209	0.82[EUR][1000 genomes]
rs10945210	0.82[EUR][1000 genomes]
rs1135056	0.97[ASN][1000 genomes]
rs113979	0.96[ASN][1000 genomes]
rs11757395	0.88[EUR][1000 genomes]
rs1200579	0.89[ASN][1000 genomes]
rs1200580	0.89[ASN][1000 genomes]
rs12189655	0.82[EUR][1000 genomes]
rs12193867	0.82[EUR][1000 genomes]
rs12195310	0.82[EUR][1000 genomes]
rs12195966	0.81[EUR][1000 genomes]
rs12196905	0.82[EUR][1000 genomes]
rs12205998	0.82[EUR][1000 genomes]
rs12210870	0.82[EUR][1000 genomes]
rs1321059	0.95[EUR][1000 genomes]
rs1753208	0.96[ASN][1000 genomes]
rs17581483	0.82[EUR][1000 genomes]
rs2274584	0.95[EUR][1000 genomes]
rs500457	0.96[ASN][1000 genomes]
rs507676	0.96[ASN][1000 genomes]
rs516166	0.89[ASN][1000 genomes]
rs519068	0.97[ASN][1000 genomes]
rs528080	0.96[ASN][1000 genomes]
rs535308	0.97[ASN][1000 genomes]
rs544179	0.89[ASN][1000 genomes]
rs546628	0.97[ASN][1000 genomes]
rs550675	0.84[ASN][1000 genomes]
rs55860958	0.82[EUR][1000 genomes]
rs657572	0.89[ASN][1000 genomes]
rs701686	0.95[ASN][1000 genomes]
rs701688	0.96[ASN][1000 genomes]
rs701689	0.96[ASN][1000 genomes]
rs701690	0.96[ASN][1000 genomes]
rs701693	0.96[ASN][1000 genomes]
rs72923164	0.88[EUR][1000 genomes]
rs72923166	0.88[EUR][1000 genomes]
rs72924908	0.82[EUR][1000 genomes]
rs9354910	0.88[EUR][1000 genomes]
rs9354911	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70952200-70964600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:70952200-70980400	Weak transcription	Fetal Stomach	stomach
3	chr6:70952200-70990000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:70952600-70966600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:70952600-70980400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:70952800-70989800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:70955200-70971000	Weak transcription	Fetal Kidney	kidney
8	chr6:70960800-70962000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:70961200-70968000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:70961400-70962200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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