Variant report

Variant	rs12424700
Chromosome Location	chr12:20640561-20640562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:20638848..20641263-chr12:20644275..20646310,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10841538	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10841546	0.81[ASN][1000 genomes]
rs10841547	0.85[ASN][1000 genomes]
rs10841549	0.81[ASN][1000 genomes]
rs10841553	0.80[ASN][1000 genomes]
rs11045251	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11045262	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11045263	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11045274	0.84[ASN][1000 genomes]
rs11045277	0.81[ASN][1000 genomes]
rs12298038	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12311557	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12317326	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12423286	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12427036	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581812	0.81[ASN][1000 genomes]
rs3925062	0.86[ASN][1000 genomes]
rs4762965	0.83[ASN][1000 genomes]
rs56040734	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56050603	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56150763	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56392934	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61584046	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61912064	0.81[ASN][1000 genomes]
rs61912065	0.82[ASN][1000 genomes]
rs7304019	0.84[ASN][1000 genomes]
rs73069202	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73073140	0.84[ASN][1000 genomes]
rs7308041	0.85[ASN][1000 genomes]
rs7484301	0.86[ASN][1000 genomes]
rs7487340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7952834	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7962724	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
2	chr12:20619200-20654200	Weak transcription	Fetal Stomach	stomach
3	chr12:20628600-20644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:20632800-20647200	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:20635200-20641000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:20635200-20641400	Enhancers	NHDF-Ad	bronchial
7	chr12:20635800-20641000	Weak transcription	Fetal Intestine Large	intestine
8	chr12:20636400-20641400	Weak transcription	Fetal Intestine Small	intestine
9	chr12:20636400-20641400	Weak transcription	Left Ventricle	heart
10	chr12:20637000-20642800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:20637200-20643200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:20638600-20642600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:20639200-20640600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:20639400-20641600	Enhancers	Osteobl	bone
15	chr12:20639400-20643000	Enhancers	A549	lung
16	chr12:20639600-20640600	Weak transcription	Hela-S3	cervix
17	chr12:20639600-20641000	Weak transcription	Brain Substantia Nigra	brain
18	chr12:20639800-20645200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:20639800-20645200	Weak transcription	Right Atrium	heart
20	chr12:20639800-20648200	Weak transcription	Adipose Nuclei	Adipose
21	chr12:20640200-20641200	Enhancers	NHLF	lung
22	chr12:20640200-20644800	Weak transcription	HUVEC	blood vessel
23	chr12:20640400-20641000	Weak transcription	Aorta	Aorta
24	chr12:20640400-20642800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:20640400-20643200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:20640400-20643200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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