Variant report

Variant	rs74076226
Chromosome Location	chr12:29192403-29192404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11049981	0.83[ASN][1000 genomes]
rs1498795	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17653960	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17704968	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960925	0.82[EUR][1000 genomes]
rs55951138	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56014476	0.80[EUR][1000 genomes]
rs56019958	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56078711	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56823591	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57629099	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58373348	0.80[EUR][1000 genomes]
rs59190473	0.80[EUR][1000 genomes]
rs60718845	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61641706	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7295808	0.80[EUR][1000 genomes]
rs7301103	0.80[EUR][1000 genomes]
rs7310637	0.80[EUR][1000 genomes]
rs7315447	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74076209	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74076219	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74076482	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74076486	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74076740	0.80[EUR][1000 genomes]
rs7957091	0.80[EUR][1000 genomes]
rs7966315	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7978880	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9651837	0.90[ASN][1000 genomes]

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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:29190000-29194200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:29191400-29194200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:29191400-29197200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:29191600-29192800	Enhancers	Osteobl	bone
5	chr12:29191600-29194400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:29191600-29196000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:29191800-29192600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:29191800-29192800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:29191800-29192800	Enhancers	Fetal Lung	lung
10	chr12:29191800-29194800	Enhancers	Fetal Intestine Large	intestine
11	chr12:29191800-29194800	Enhancers	Fetal Intestine Small	intestine
12	chr12:29191800-29197000	Enhancers	NHLF	lung
13	chr12:29192000-29192800	Enhancers	Fetal Kidney	kidney
14	chr12:29192200-29192800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:29192400-29192600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:29192400-29192800	Flanking Active TSS	NHDF-Ad	bronchial
17	chr12:29192400-29193200	Enhancers	Fetal Stomach	stomach
18	chr12:29192400-29194400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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