Variant report

Variant	rs62134744
Chromosome Location	chr2:54954016-54954017
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62134704	0.83[EUR][1000 genomes]
rs62134712	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62134742	1.00[AMR][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv2622685	chr2:54953935-54955417	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54950200-54954400	Active TSS	Brain Angular Gyrus	brain
2	chr2:54952600-54955400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:54952600-54955600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:54952800-54955200	Weak transcription	HSMM	muscle
5	chr2:54953200-54954200	Enhancers	Brain Anterior Caudate	brain
6	chr2:54953200-54955000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:54953400-54954800	Weak transcription	HepG2	liver
8	chr2:54953400-54955400	Weak transcription	HSMMtube	muscle
9	chr2:54953600-54956600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:54953800-54954400	Enhancers	Hela-S3	cervix
11	chr2:54954000-54954200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:54954000-54954400	Enhancers	HMEC	breast
13	chr2:54954000-54954400	Enhancers	NHEK	skin
14	chr2:54954000-54954600	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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