Variant report

Variant	rs4762976
Chromosome Location	chr12:20791668-20791669
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12580173	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs35049595	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4762978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71539448	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	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv898858	chr12:20775890-20791982	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20766600-20805000	Strong transcription	Hela-S3	cervix
2	chr12:20768000-20813600	Weak transcription	Colonic Mucosa	Colon
3	chr12:20774000-20810800	Weak transcription	Placenta	Placenta
4	chr12:20780400-20812800	Weak transcription	Adipose Nuclei	Adipose
5	chr12:20780600-20812800	Weak transcription	Small Intestine	intestine
6	chr12:20782800-20792600	Weak transcription	Fetal Lung	lung
7	chr12:20782800-20799000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:20783000-20801600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:20783000-20808200	Weak transcription	Ovary	ovary
10	chr12:20783000-20808400	Weak transcription	Pancreas	Pancrea
11	chr12:20783000-20812600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:20783200-20803400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:20784600-20794600	Strong transcription	Fetal Intestine Large	intestine
14	chr12:20784600-20799600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:20784600-20810600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:20784800-20812600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:20784800-20816000	Weak transcription	Osteobl	bone
18	chr12:20785000-20809400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:20785600-20799000	Weak transcription	A549	lung
20	chr12:20785600-20808400	Weak transcription	Fetal Kidney	kidney
21	chr12:20786800-20800200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:20787200-20794400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr12:20788000-20812400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:20788200-20806800	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:20788400-20799000	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:20788400-20806800	Weak transcription	Aorta	Aorta
27	chr12:20788400-20808200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:20788400-20808200	Weak transcription	Right Ventricle	heart
29	chr12:20788600-20801600	Weak transcription	Fetal Intestine Small	intestine
30	chr12:20788600-20806400	Weak transcription	Fetal Stomach	stomach
31	chr12:20789400-20804000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:20789600-20803400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:20790600-20794400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:20791200-20791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:20791200-20791800	Genic enhancers	HUVEC	blood vessel
36	chr12:20791400-20791800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:20791400-20791800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:20791400-20791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:20791400-20791800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr12:20791400-20791800	Enhancers	NH-A	brain
41	chr12:20791600-20795800	Weak transcription	Left Ventricle	heart

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