Variant report

Variant	rs2450083
Chromosome Location	chr8:120063542-120063543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1032128	0.84[JPT][hapmap]
rs1032129	0.85[JPT][hapmap]
rs10505348	0.84[CEU][hapmap]
rs11573829	0.80[CEU][hapmap]
rs13264791	0.84[EUR][1000 genomes]
rs1485286	0.85[JPT][hapmap]
rs2073617	0.81[CEU][hapmap]
rs3134063	0.80[CEU][hapmap]
rs4242592	0.85[CEU][hapmap]
rs4319131	0.81[CEU][hapmap]
rs6415470	0.81[CEU][hapmap]
rs6469789	0.81[CEU][hapmap]
rs7006553	0.85[CEU][hapmap]
rs7010267	0.80[CEU][hapmap]
rs7016223	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7463176	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bone mineral density (paediatric, skull)	24945404	GWAS catalog

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120054800-120066400	Enhancers	Hela-S3	cervix
2	chr8:120059000-120063600	Weak transcription	HUVEC	blood vessel
3	chr8:120059800-120063600	Weak transcription	Fetal Brain Male	brain
4	chr8:120059800-120067400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:120062800-120066400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:120062800-120067600	Enhancers	Osteobl	bone
7	chr8:120062800-120067800	Enhancers	NHDF-Ad	bronchial
8	chr8:120063000-120067000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:120063000-120067800	Enhancers	NH-A	brain
10	chr8:120063200-120064200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:120063200-120066600	Weak transcription	NHLF	lung
12	chr8:120063400-120064200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:120063400-120064400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:120063400-120064600	Enhancers	NHEK	skin
15	chr8:120063400-120065000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:120063400-120065000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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