Variant report

Variant	rs12307274
Chromosome Location	chr12:20785542-20785543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10743380	0.86[EUR][1000 genomes]
rs11610456	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11611208	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11611971	0.97[EUR][1000 genomes]
rs11612686	0.81[EUR][1000 genomes]
rs11615708	0.89[EUR][1000 genomes]
rs4131319	0.81[EUR][1000 genomes]
rs4265637	0.81[EUR][1000 genomes]
rs6487113	0.87[EUR][1000 genomes]
rs7308381	0.97[EUR][1000 genomes]
rs7964099	0.95[EUR][1000 genomes]
rs9668712	0.97[EUR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20766600-20787800	Weak transcription	Right Ventricle	heart
2	chr12:20766600-20805000	Strong transcription	Hela-S3	cervix
3	chr12:20767600-20787800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:20768000-20813600	Weak transcription	Colonic Mucosa	Colon
5	chr12:20769800-20787200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:20774000-20810800	Weak transcription	Placenta	Placenta
7	chr12:20780400-20812800	Weak transcription	Adipose Nuclei	Adipose
8	chr12:20780600-20812800	Weak transcription	Small Intestine	intestine
9	chr12:20782200-20787200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:20782800-20792600	Weak transcription	Fetal Lung	lung
11	chr12:20782800-20799000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:20783000-20786600	Weak transcription	Fetal Stomach	stomach
13	chr12:20783000-20787200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:20783000-20787200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:20783000-20791200	Weak transcription	HUVEC	blood vessel
16	chr12:20783000-20801600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:20783000-20808200	Weak transcription	Ovary	ovary
18	chr12:20783000-20808400	Weak transcription	Pancreas	Pancrea
19	chr12:20783000-20812600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:20783200-20785600	Enhancers	A549	lung
21	chr12:20783200-20787200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:20783200-20787800	Weak transcription	Aorta	Aorta
23	chr12:20783200-20803400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:20783400-20789400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:20783600-20787400	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:20783800-20791400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:20784400-20785600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:20784400-20786000	Weak transcription	Fetal Intestine Small	intestine
29	chr12:20784400-20788800	Strong transcription	Left Ventricle	heart
30	chr12:20784600-20794600	Strong transcription	Fetal Intestine Large	intestine
31	chr12:20784600-20799600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:20784600-20810600	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:20784800-20785600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:20784800-20812600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:20784800-20816000	Weak transcription	Osteobl	bone
36	chr12:20785000-20785600	Enhancers	Fetal Kidney	kidney
37	chr12:20785000-20786600	Weak transcription	HepG2	liver
38	chr12:20785000-20787400	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:20785000-20809400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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