Variant report

Variant	rs2090295
Chromosome Location	chr2:190068444-190068445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10191420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11884504	0.89[ASN][1000 genomes]
rs12473931	0.89[ASN][1000 genomes]
rs1515868	0.89[ASN][1000 genomes]
rs60251658	0.94[ASN][1000 genomes]
rs6414124	0.83[ASN][1000 genomes]
rs6723725	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7560722	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190056800-190069400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:190064800-190073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:190065000-190073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:190067600-190068800	Enhancers	Osteobl	bone
5	chr2:190067800-190068600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:190068000-190069400	Active TSS	K562	blood
7	chr2:190068200-190068600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr2:190068200-190068800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:190068200-190069200	Active TSS	A549	lung
10	chr2:190068200-190069200	Active TSS	Hela-S3	cervix
11	chr2:190068200-190069800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:190068200-190070200	Enhancers	NHDF-Ad	bronchial
13	chr2:190068200-190070200	Enhancers	NHLF	lung
14	chr2:190068400-190069200	Active TSS	Placenta	Placenta
15	chr2:190068400-190070400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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