Variant report

Variant	rs12581812
Chromosome Location	chr12:20628548-20628549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10047559	0.89[EUR][1000 genomes]
rs10770661	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10770662	0.83[ASN][1000 genomes]
rs10770663	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10770664	0.83[ASN][1000 genomes]
rs10841531	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10841532	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10841533	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10841535	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10841539	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10841540	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10841541	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10841542	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10841544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10841546	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10841547	0.92[ASN][1000 genomes]
rs10841548	0.85[EUR][1000 genomes]
rs10841549	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10841553	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10841556	0.85[AFR][1000 genomes]
rs11045252	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11045266	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11045270	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11045272	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11045274	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11045277	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11045283	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11045284	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11045285	0.85[AFR][1000 genomes]
rs12423286	0.82[ASN][1000 genomes]
rs12424700	0.81[ASN][1000 genomes]
rs12427036	0.83[ASN][1000 genomes]
rs3925062	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4762964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4762965	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56040734	0.85[ASN][1000 genomes]
rs56050603	0.83[ASN][1000 genomes]
rs61912062	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61912063	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61912064	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61912065	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7304019	0.94[ASN][1000 genomes]
rs73073140	0.93[ASN][1000 genomes]
rs7308041	0.92[ASN][1000 genomes]
rs7308231	0.83[ASN][1000 genomes]
rs7484301	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7486077	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7487173	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7487340	0.80[ASN][1000 genomes]
rs7962724	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv557701	chr12:20614024-20643574	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
2	chr12:20619200-20628600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:20619200-20654200	Weak transcription	Fetal Stomach	stomach
4	chr12:20623200-20635200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:20626400-20628600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:20626400-20630000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:20627000-20628600	Weak transcription	Right Atrium	heart
8	chr12:20627200-20629000	Enhancers	A549	lung
9	chr12:20627400-20628600	Enhancers	NHDF-Ad	bronchial
10	chr12:20627400-20628800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr12:20627400-20628800	Enhancers	NH-A	brain
12	chr12:20627400-20629000	Flanking Active TSS	Osteobl	bone
13	chr12:20627800-20628600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:20627800-20628600	Active TSS	Aorta	Aorta
15	chr12:20627800-20630000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:20627800-20635600	Weak transcription	Hela-S3	cervix
17	chr12:20628200-20628800	Enhancers	Left Ventricle	heart
18	chr12:20628200-20629000	Enhancers	Fetal Intestine Small	intestine
19	chr12:20628400-20628600	Enhancers	Ovary	ovary
20	chr12:20628400-20628600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr12:20628400-20628800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:20628400-20628800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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