Variant report

Variant	rs16926008
Chromosome Location	chr8:61239915-61239916
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10092218	0.90[CEU][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12542601	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12680649	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708003	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap]
rs13271624	1.00[AFR][1000 genomes]
rs13279521	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1585888	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1893275	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34334893	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35966938	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59550103	1.00[AFR][1000 genomes]
rs6471874	0.81[MKK][hapmap]
rs7461425	1.00[AFR][1000 genomes]
rs7824479	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs899741	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs922610	0.93[CHD][hapmap];0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking 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	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61238200-61240000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr8:61238200-61240400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:61238200-61240600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:61238200-61240600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:61238200-61242200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:61238600-61242400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:61239000-61240600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:61239400-61241000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:61239600-61241000	Weak transcription	K562	blood

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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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