Variant report

Variant	rs73383467
Chromosome Location	chr12:105332276-105332277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11112189	0.82[ASN][1000 genomes]
rs11834087	0.90[ASN][1000 genomes]
rs12579202	0.91[ASN][1000 genomes]
rs12579469	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12579505	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12579945	0.82[ASN][1000 genomes]
rs12580114	0.85[ASN][1000 genomes]
rs12580128	0.91[ASN][1000 genomes]
rs12580794	0.82[ASN][1000 genomes]
rs12581352	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12582312	0.90[ASN][1000 genomes]
rs17036358	0.82[ASN][1000 genomes]
rs17036429	0.91[ASN][1000 genomes]
rs17036433	0.89[ASN][1000 genomes]
rs17036489	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17036545	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4369494	0.94[ASN][1000 genomes]
rs4545639	0.92[ASN][1000 genomes]
rs57144501	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57685442	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59079144	0.91[ASN][1000 genomes]
rs60976244	0.94[ASN][1000 genomes]
rs61129422	0.89[ASN][1000 genomes]
rs73383408	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73383420	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73383435	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73383439	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73383441	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73383473	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394174	0.82[ASN][1000 genomes]
rs73394185	0.89[ASN][1000 genomes]
rs73394186	0.89[ASN][1000 genomes]
rs73396157	0.90[ASN][1000 genomes]
rs73396159	0.90[ASN][1000 genomes]
rs73399912	0.91[ASN][1000 genomes]
rs73399925	0.89[ASN][1000 genomes]
rs73399927	0.89[ASN][1000 genomes]
rs73399929	0.89[ASN][1000 genomes]
rs73399931	0.89[ASN][1000 genomes]
rs73399934	0.94[ASN][1000 genomes]
rs73399944	0.94[ASN][1000 genomes]
rs73399947	0.93[ASN][1000 genomes]
rs73399956	0.94[ASN][1000 genomes]
rs73399960	0.94[ASN][1000 genomes]
rs73399968	0.94[ASN][1000 genomes]
rs7976092	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105323600-105338000	Weak transcription	Pancreas	Pancrea
2	chr12:105325000-105332400	Weak transcription	Osteobl	bone
3	chr12:105325600-105332400	Weak transcription	Liver	Liver
4	chr12:105331400-105333400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:105331600-105332600	Enhancers	HSMMtube	muscle
6	chr12:105332000-105332400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:105332000-105332600	Enhancers	HSMM	muscle
8	chr12:105332200-105332400	Enhancers	Aorta	Aorta
9	chr12:105332200-105332400	Enhancers	Gastric	stomach
10	chr12:105332200-105332400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr12:105332200-105332400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr12:105332200-105332600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:105332200-105332600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:105332200-105332600	Enhancers	NHDF-Ad	bronchial
15	chr12:105332200-105333000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:105332200-105333200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:105332200-105333400	Enhancers	Adipose Nuclei	Adipose

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