Variant report

Variant	rs13250256
Chromosome Location	chr8:96218333-96218334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11987379	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11987491	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13253679	0.94[EUR][1000 genomes]
rs13257907	1.00[CEU][hapmap];0.82[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13259025	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13260846	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13261245	1.00[CEU][hapmap];0.85[GIH][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13270120	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4236832	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs4734300	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67235598	0.89[EUR][1000 genomes]
rs7012668	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs734666	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7825383	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7825673	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96209000-96220000	Weak transcription	Right Ventricle	heart
2	chr8:96214200-96220000	Weak transcription	HMEC	breast
3	chr8:96214200-96226400	Weak transcription	Right Atrium	heart
4	chr8:96214400-96233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:96215200-96220400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:96215400-96219400	Weak transcription	Placenta	Placenta
7	chr8:96215600-96220000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:96215800-96220800	Weak transcription	Primary B cells from cord blood	blood
9	chr8:96215800-96220800	Weak transcription	Thymus	Thymus
10	chr8:96216200-96220000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:96216800-96220000	Weak transcription	Esophagus	oesophagus
12	chr8:96217000-96219400	Weak transcription	Fetal Thymus	thymus
13	chr8:96217200-96220600	Weak transcription	Gastric	stomach
14	chr8:96217400-96220200	Weak transcription	K562	blood
15	chr8:96217800-96218800	Weak transcription	Pancreas	Pancrea
16	chr8:96217800-96220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:96218000-96219200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:96218000-96220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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