Variant report

Variant	rs2701632
Chromosome Location	chr12:120769657-120769658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1007469	0.92[CEU][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1179434	0.88[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs1179450	1.00[CEU][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs1183783	0.88[CEU][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs2009391	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2238160	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs2522136	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2522137	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs2701629	0.82[ASN][1000 genomes]
rs7959801	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
5	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2701632	POP5	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120764000-120773800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:120764000-120783800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:120764000-120799200	Weak transcription	Right Atrium	heart
4	chr12:120766200-120779200	Weak transcription	Liver	Liver
5	chr12:120768800-120770600	Enhancers	Pancreas	Pancrea
6	chr12:120769200-120770600	Enhancers	Fetal Intestine Large	intestine
7	chr12:120769400-120770200	Flanking Active TSS	HepG2	liver
8	chr12:120769400-120770600	Enhancers	Duodenum Mucosa	Duodenum
9	chr12:120769400-120770600	Enhancers	Fetal Intestine Small	intestine
10	chr12:120769400-120770600	Enhancers	Small Intestine	intestine
11	chr12:120769400-120785000	Weak transcription	Gastric	stomach

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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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