Variant report

Variant	rs34639000
Chromosome Location	chr5:95530542-95530543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10866767	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11747615	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11948972	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11959068	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12659143	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13153770	0.82[AMR][1000 genomes]
rs13178392	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13181198	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34023054	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34713740	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34973883	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3922467	0.90[EUR][1000 genomes]
rs4424016	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4529218	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4637573	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4869276	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62367170	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6866846	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7444135	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95513600-95532200	Weak transcription	Pancreas	Pancrea
2	chr5:95523800-95532600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:95523800-95539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:95527200-95530600	Weak transcription	NHEK	skin
5	chr5:95528400-95532800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:95528800-95534400	Weak transcription	Gastric	stomach
7	chr5:95529400-95535000	Enhancers	HepG2	liver
8	chr5:95529600-95530600	Enhancers	Fetal Intestine Small	intestine
9	chr5:95529600-95531200	Enhancers	Fetal Intestine Large	intestine
10	chr5:95529600-95531600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:95529800-95531000	Enhancers	Small Intestine	intestine
12	chr5:95529800-95533400	Weak transcription	Stomach Mucosa	stomach
13	chr5:95530200-95535400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:95530400-95530600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:95530400-95531200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:95530400-95531200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:95530400-95531600	Enhancers	Osteobl	bone
18	chr5:95530400-95532000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:95530400-95533400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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