Variant report

Variant	rs16914423
Chromosome Location	chr8:51095326-51095327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10109835	0.87[JPT][hapmap]
rs1026963	0.85[CHB][hapmap]
rs11998408	0.85[CHB][hapmap]
rs1484811	0.85[CHB][hapmap];0.87[AMR][1000 genomes]
rs16914250	0.82[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs16914299	0.85[CHB][hapmap];0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16914318	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16914321	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16914526	0.85[CHB][hapmap]
rs1906070	0.85[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs1948002	0.85[CHB][hapmap]
rs1993680	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs318919	0.85[CHB][hapmap]
rs318922	0.85[CHB][hapmap]
rs4467946	0.85[CHB][hapmap]
rs4873402	0.85[CHB][hapmap]
rs4873409	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs55889053	0.87[AMR][1000 genomes]
rs58489421	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58958741	0.93[ASN][1000 genomes]
rs73676252	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73676273	0.93[ASN][1000 genomes]
rs7845651	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1829361	chr8:51021638-51101126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1027984	chr8:51060895-51098808	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51093800-51095400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:51094000-51095400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:51094800-51095400	Enhancers	Osteobl	bone
4	chr8:51095200-51095800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:51095200-51096200	Flanking Active TSS	NH-A	brain
6	chr8:51095200-51096600	Enhancers	HMEC	breast

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