Variant report

Variant	rs625762
Chromosome Location	chr2:33657487-33657488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11902602	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2445239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs625299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs646374	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6718472	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6759329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs679823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs680313	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs683473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv2762447	chr2:33643724-33674484	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33645200-33667800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:33645800-33661200	Weak transcription	Fetal Kidney	kidney
3	chr2:33652000-33661200	Weak transcription	Psoas Muscle	Psoas
4	chr2:33652000-33661200	Weak transcription	Right Atrium	heart
5	chr2:33652400-33658600	Weak transcription	Fetal Heart	heart
6	chr2:33652400-33661200	Weak transcription	Right Ventricle	heart
7	chr2:33652400-33661200	Weak transcription	HSMM	muscle
8	chr2:33652800-33661000	Weak transcription	NH-A	brain
9	chr2:33656000-33657800	Enhancers	K562	blood
10	chr2:33656400-33657600	Weak transcription	NHDF-Ad	bronchial
11	chr2:33656400-33657800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:33656400-33660800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:33656600-33658600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:33657000-33660400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:33657200-33660600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:33657200-33660600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:33657200-33661000	Weak transcription	NHLF	lung
18	chr2:33657400-33660600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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