Variant report

Variant	rs334048
Chromosome Location	chr2:179016993-179016994
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs101266	0.81[JPT][hapmap]
rs10930824	0.82[ASN][1000 genomes]
rs10930827	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs11883528	0.84[ASN][1000 genomes]
rs12185670	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12620314	0.84[ASN][1000 genomes]
rs12623701	0.82[ASN][1000 genomes]
rs13004218	0.82[ASN][1000 genomes]
rs13390231	0.80[ASN][1000 genomes]
rs1374257	0.89[ASN][1000 genomes]
rs147180	0.81[JPT][hapmap]
rs186736	0.87[JPT][hapmap]
rs1900251	0.88[ASN][1000 genomes]
rs2116544	0.82[ASN][1000 genomes]
rs333997	0.81[JPT][hapmap]
rs334024	0.87[JPT][hapmap]
rs334028	0.86[JPT][hapmap]
rs334037	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs334041	0.81[JPT][hapmap]
rs334043	0.81[JPT][hapmap]
rs334044	0.81[JPT][hapmap]
rs334051	0.89[ASN][1000 genomes]
rs334102	0.81[JPT][hapmap]
rs334103	0.81[JPT][hapmap]
rs334110	0.81[JPT][hapmap]
rs34238455	0.82[ASN][1000 genomes]
rs34477946	0.82[ASN][1000 genomes]
rs35776135	0.82[ASN][1000 genomes]
rs4638831	0.82[ASN][1000 genomes]
rs4893999	0.86[ASN][1000 genomes]
rs4894000	0.80[ASN][1000 genomes]
rs551368	0.81[JPT][hapmap]
rs62176039	0.89[ASN][1000 genomes]
rs7419749	0.87[JPT][hapmap]
rs7581504	0.81[JPT][hapmap]

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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs334048	DFNB59,NUDC	cis	brain	BrainEAC

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178987800-179017000	Weak transcription	Fetal Lung	lung
2	chr2:179016200-179019200	Enhancers	Fetal Intestine Large	intestine
3	chr2:179016400-179017000	Enhancers	Gastric	stomach
4	chr2:179016400-179018600	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr2:179016800-179017000	Bivalent Enhancer	Small Intestine	intestine
6	chr2:179016800-179017000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr2:179016800-179017200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:179016800-179017400	Enhancers	Adipose Nuclei	Adipose
9	chr2:179016800-179017600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:179016800-179017600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:179016800-179018200	Enhancers	HepG2	liver
12	chr2:179016800-179018600	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:179016800-179019400	Enhancers	Fetal Intestine Small	intestine

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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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