Variant report

Variant	rs17120486
Chromosome Location	chr12:64346946-64346947
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11175170	1.00[EUR][1000 genomes]
rs1378776	1.00[EUR][1000 genomes]
rs57189357	1.00[EUR][1000 genomes]
rs59738547	1.00[EUR][1000 genomes]
rs61590644	1.00[EUR][1000 genomes]
rs7135387	1.00[EUR][1000 genomes]
rs7135485	1.00[EUR][1000 genomes]
rs7303224	1.00[EUR][1000 genomes]
rs7303379	1.00[EUR][1000 genomes]
rs73319374	1.00[EUR][1000 genomes]
rs789715	1.00[EUR][1000 genomes]
rs789716	1.00[EUR][1000 genomes]
rs789717	1.00[EUR][1000 genomes]
rs789718	1.00[EUR][1000 genomes]
rs7977095	1.00[EUR][1000 genomes]
rs806070	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv559201	chr12:64333212-64366408	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64328800-64360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:64333000-64349200	Weak transcription	HSMM	muscle
4	chr12:64334800-64349800	Weak transcription	Right Atrium	heart
5	chr12:64334800-64349800	Weak transcription	HSMMtube	muscle
6	chr12:64336600-64349200	Weak transcription	NHDF-Ad	bronchial
7	chr12:64339600-64349600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:64339800-64349200	Weak transcription	NHLF	lung
9	chr12:64339800-64349800	Weak transcription	Pancreas	Pancrea
10	chr12:64340000-64360200	Weak transcription	NHEK	skin
11	chr12:64343400-64347600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:64344200-64347400	Weak transcription	Fetal Brain Female	brain
13	chr12:64344200-64349000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:64344200-64349200	Weak transcription	Osteobl	bone
15	chr12:64344200-64361000	Weak transcription	HMEC	breast
16	chr12:64344400-64349000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:64344400-64349000	Weak transcription	Adipose Nuclei	Adipose
18	chr12:64344400-64349200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:64344400-64349200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:64344400-64349600	Weak transcription	Fetal Kidney	kidney
21	chr12:64344400-64349800	Weak transcription	Ovary	ovary
22	chr12:64344600-64347400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:64344600-64349200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:64344600-64349200	Weak transcription	Liver	Liver
25	chr12:64344600-64349200	Weak transcription	Brain Substantia Nigra	brain
26	chr12:64344600-64349200	Weak transcription	Stomach Mucosa	stomach
27	chr12:64344600-64349400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:64344600-64349600	Weak transcription	Fetal Lung	lung
29	chr12:64344600-64349800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:64344600-64349800	Weak transcription	Left Ventricle	heart
31	chr12:64344600-64351600	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:64344600-64352400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:64344600-64359800	Weak transcription	Small Intestine	intestine
34	chr12:64344600-64363800	Weak transcription	Fetal Intestine Small	intestine
35	chr12:64344800-64349200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:64345400-64347400	Enhancers	Fetal Brain Male	brain
37	chr12:64345400-64363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:64345800-64347000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:64345800-64349200	Weak transcription	A549	lung
40	chr12:64346000-64349600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:64346000-64365400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:64346200-64349000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:64346400-64347000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:64346400-64349600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:64346600-64347000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:64346600-64347200	Enhancers	Brain Hippocampus Middle	brain
47	chr12:64346800-64347000	Enhancers	Brain Anterior Caudate	brain
48	chr12:64346800-64347000	Enhancers	Gastric	stomach
49	chr12:64346800-64347200	Enhancers	Fetal Heart	heart

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