Variant report

Variant	rs12317699
Chromosome Location	chr12:20622066-20622067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11045276	0.85[AFR][1000 genomes]
rs11045278	0.85[AFR][1000 genomes]
rs12308852	1.00[YRI][hapmap]
rs12309205	1.00[AMR][1000 genomes]
rs12318388	1.00[AMR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
2	chr12:20619200-20627400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:20619200-20628600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:20619200-20654200	Weak transcription	Fetal Stomach	stomach
5	chr12:20619600-20628400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:20619800-20625400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:20620000-20622800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:20620800-20623000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:20620800-20623400	Enhancers	Osteobl	bone
10	chr12:20621000-20622200	Enhancers	NHDF-Ad	bronchial
11	chr12:20621000-20622800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:20621200-20623200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:20621400-20623000	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr12:20621400-20623200	Enhancers	Fetal Intestine Large	intestine
15	chr12:20621400-20623400	Enhancers	Adipose Nuclei	Adipose
16	chr12:20621600-20623600	Enhancers	Colon Smooth Muscle	Colon
17	chr12:20621600-20627400	Weak transcription	Fetal Intestine Small	intestine
18	chr12:20621600-20627400	Weak transcription	Pancreas	Pancrea
19	chr12:20621800-20622400	Enhancers	Small Intestine	intestine
20	chr12:20621800-20627600	Weak transcription	Left Ventricle	heart
21	chr12:20622000-20622400	Genic enhancers	Hela-S3	cervix
22	chr12:20622000-20622800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:20622000-20623200	Weak transcription	Ovary	ovary
24	chr12:20622000-20623800	Weak transcription	Right Atrium	heart
25	chr12:20622000-20625000	Weak transcription	A549	lung

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