Variant report

Variant	rs62193985
Chromosome Location	chr2:233892821-233892822
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12464542	0.88[EUR][1000 genomes]
rs2233375	0.83[ASN][1000 genomes]
rs62193981	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193982	0.83[AMR][1000 genomes];0.89[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	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876011	chr2:233809244-233912755	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233864400-233902800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233888400-233900200	Weak transcription	Esophagus	oesophagus
3	chr2:233888800-233896200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:233891600-233896200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:233891600-233896400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:233891600-233898200	Weak transcription	NH-A	brain
7	chr2:233891600-233900200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:233891800-233893000	Weak transcription	A549	lung
9	chr2:233891800-233893000	Weak transcription	Hela-S3	cervix
10	chr2:233891800-233893400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:233891800-233893800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:233891800-233894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:233891800-233894000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:233891800-233896600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:233891800-233897000	Weak transcription	Osteobl	bone
16	chr2:233891800-233897200	Weak transcription	HMEC	breast
17	chr2:233892000-233898000	Weak transcription	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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