Variant report

Variant	rs997034
Chromosome Location	chr8:51553160-51553161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10110303	1.00[CEU][hapmap]
rs10110909	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs10958001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781366	0.87[CEU][hapmap]
rs1483641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1848438	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873152	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6473271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6990703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap]
rs751629	0.81[TSI][hapmap]
rs900577	0.93[TSI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv429914	chr8:51371447-51617647	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv890873	chr8:51462163-51612641	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1027452	chr8:51525439-51725489	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51545000-51553800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:51550600-51555600	Enhancers	HUVEC	blood vessel
3	chr8:51552000-51554000	Enhancers	Primary B cells from cord blood	blood
4	chr8:51552400-51554000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:51552400-51554200	Enhancers	Hela-S3	cervix
6	chr8:51552400-51554600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:51552400-51556000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:51552600-51553400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:51552600-51553400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:51552600-51553800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr8:51552600-51554200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:51552600-51554200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:51552800-51553200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:51552800-51553200	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:51552800-51553600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:51552800-51554000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:51552800-51554400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:51552800-51555800	Enhancers	Brain Germinal Matrix	brain
19	chr8:51553000-51553200	Flanking Active TSS	NH-A	brain
20	chr8:51553000-51555000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:51553000-51555600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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