Variant report

Variant	rs2927869
Chromosome Location	chr8:114444017-114444018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:114435797..114438781-chr8:114443874..114445936,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10089887	0.96[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786058	0.83[EUR][1000 genomes]
rs11985886	0.80[EUR][1000 genomes]
rs12541897	0.81[EUR][1000 genomes]
rs12545155	0.96[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676699	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12678354	0.96[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1382467	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398811	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513523	1.00[JPT][hapmap]
rs1513524	1.00[CEU][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1551957	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28696718	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927865	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2927868	0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927870	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927871	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927872	1.00[CEU][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927873	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2927874	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2942835	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2942845	0.85[EUR][1000 genomes]
rs2942848	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942851	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942852	1.00[CEU][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942853	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2954880	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2954881	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2954894	0.85[EUR][1000 genomes]
rs4311682	0.96[CEU][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4354335	0.96[CEU][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531082	0.89[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4593574	0.96[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469455	0.96[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469457	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7002354	1.00[CEU][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7003686	0.93[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829130	0.83[EUR][1000 genomes]
rs7831822	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7839252	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839352	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297493	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643079	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9649937	0.96[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966371	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2754463	chr8:114353649-114501547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2761461	chr8:114420164-114462173	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831429	chr8:114438561-114595565	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114442800-114444200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:114443800-114444200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:114443800-114450200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:114443800-114450400	Active TSS	Brain Substantia Nigra	brain
5	chr8:114444000-114444200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr8:114444000-114444200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr8:114444000-114444200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr8:114444000-114444200	Active TSS	Brain Angular Gyrus	brain
9	chr8:114444000-114444200	Active TSS	Fetal Brain Female	brain
10	chr8:114444000-114444400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chr8:114444000-114444400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr8:114444000-114444400	Active TSS	Brain Anterior Caudate	brain
13	chr8:114444000-114444400	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr8:114444000-114444400	Bivalent Enhancer	Fetal Brain Male	brain
15	chr8:114444000-114444600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:114444000-114445000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:114444000-114445400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:114444000-114445800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
19	chr8:114444000-114446800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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