Variant report

Variant	rs2691462
Chromosome Location	chr1:57954416-57954417
allele	C/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]
rs2691449	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2805873	1.00[MEX][hapmap]
rs2805878	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs3131753	1.00[MEX][hapmap]

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	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57940800-57954800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:57943200-57955200	Weak transcription	Stomach Mucosa	stomach
3	chr1:57949800-57954600	Weak transcription	NHEK	skin
4	chr1:57951600-57954800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:57951800-57954600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:57951800-57954800	Weak transcription	Osteobl	bone
7	chr1:57952000-57954800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:57952000-57955200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:57952200-57954600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:57952200-57954600	Weak transcription	NHDF-Ad	bronchial
11	chr1:57952200-57954600	Weak transcription	NHLF	lung
12	chr1:57952200-57954800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:57952200-57954800	Weak transcription	NH-A	brain
14	chr1:57952400-57954600	Weak transcription	Hela-S3	cervix
15	chr1:57953200-57954600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:57953200-57955200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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