Variant report

Variant	rs7315451
Chromosome Location	chr12:20646575-20646576
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	chr12:20635113..20636707-chr12:20644352..20647044,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11614638	0.83[AMR][1000 genomes]
rs12308852	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311494	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12322107	1.00[AFR][1000 genomes]
rs4128682	1.00[AFR][1000 genomes]
rs55942408	0.83[AMR][1000 genomes]
rs56099634	0.83[AMR][1000 genomes]
rs56186852	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56256297	0.94[AMR][1000 genomes];1.00[EUR][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	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20619200-20654200	Weak transcription	Fetal Stomach	stomach
2	chr12:20632800-20647200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:20639800-20648200	Weak transcription	Adipose Nuclei	Adipose
4	chr12:20642400-20660000	Weak transcription	Fetal Intestine Large	intestine
5	chr12:20642600-20649200	Enhancers	NHDF-Ad	bronchial
6	chr12:20643400-20650800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:20644000-20646800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:20644400-20650000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:20644800-20648200	Enhancers	HUVEC	blood vessel
10	chr12:20645000-20646800	Enhancers	Aorta	Aorta
11	chr12:20645000-20648200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:20645000-20648400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:20645200-20646600	Enhancers	Right Atrium	heart
14	chr12:20645400-20648400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:20645400-20649400	Weak transcription	Pancreas	Pancrea
16	chr12:20645600-20646600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:20645600-20656800	Weak transcription	Fetal Intestine Small	intestine
18	chr12:20645600-20658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:20645800-20646600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:20645800-20646600	Weak transcription	Right Ventricle	heart
21	chr12:20645800-20646800	Weak transcription	NHLF	lung
22	chr12:20645800-20647200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:20645800-20649000	Weak transcription	Ovary	ovary
24	chr12:20645800-20649400	Enhancers	Osteobl	bone
25	chr12:20646000-20647000	Weak transcription	NH-A	brain
26	chr12:20646200-20646800	Enhancers	A549	lung
27	chr12:20646200-20648200	Enhancers	Hela-S3	cervix
28	chr12:20646400-20647000	Enhancers	Left Ventricle	heart
29	chr12:20646400-20648200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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