Variant report

Variant	rs74097504
Chromosome Location	chr12:64348088-64348089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12296441	1.00[EUR][1000 genomes]
rs12302441	1.00[EUR][1000 genomes]
rs12307017	1.00[EUR][1000 genomes]
rs12313251	1.00[EUR][1000 genomes]
rs12315032	1.00[EUR][1000 genomes]
rs12316287	1.00[EUR][1000 genomes]
rs12318085	1.00[EUR][1000 genomes]
rs12320688	1.00[EUR][1000 genomes]
rs17099997	1.00[EUR][1000 genomes]
rs17100007	1.00[EUR][1000 genomes]
rs17100009	1.00[EUR][1000 genomes]
rs17100013	1.00[EUR][1000 genomes]
rs55801058	1.00[EUR][1000 genomes]
rs57074356	1.00[EUR][1000 genomes]
rs57138272	1.00[EUR][1000 genomes]
rs57140731	1.00[EUR][1000 genomes]
rs57540857	1.00[EUR][1000 genomes]
rs57937852	1.00[EUR][1000 genomes]
rs58129443	1.00[EUR][1000 genomes]
rs59161915	1.00[EUR][1000 genomes]
rs60392489	1.00[EUR][1000 genomes]
rs74097515	1.00[EUR][1000 genomes]
rs74097516	1.00[EUR][1000 genomes]
rs74097517	1.00[EUR][1000 genomes]
rs74097545	1.00[EUR][1000 genomes]
rs74097547	1.00[EUR][1000 genomes]
rs74099369	1.00[EUR][1000 genomes]
rs74099375	1.00[EUR][1000 genomes]
rs74099376	1.00[EUR][1000 genomes]
rs74099377	1.00[EUR][1000 genomes]
rs74099378	1.00[EUR][1000 genomes]
rs74099379	1.00[EUR][1000 genomes]
rs74099380	1.00[EUR][1000 genomes]
rs74099381	1.00[EUR][1000 genomes]
rs74099382	1.00[EUR][1000 genomes]
rs74099383	1.00[EUR][1000 genomes]
rs74099384	1.00[EUR][1000 genomes]
rs74099385	1.00[EUR][1000 genomes]
rs74099392	1.00[EUR][1000 genomes]
rs74099393	1.00[EUR][1000 genomes]
rs74099395	1.00[EUR][1000 genomes]
rs74099398	1.00[EUR][1000 genomes]
rs74099400	1.00[EUR][1000 genomes]
rs7961633	1.00[EUR][1000 genomes]
rs7961964	1.00[EUR][1000 genomes]
rs7976142	1.00[EUR][1000 genomes]
rs7976369	1.00[EUR][1000 genomes]
rs7977480	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:46 , 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	chr12:64344200-64349000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:64344200-64349200	Weak transcription	Osteobl	bone
13	chr12:64344200-64361000	Weak transcription	HMEC	breast
14	chr12:64344400-64349000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:64344400-64349000	Weak transcription	Adipose Nuclei	Adipose
16	chr12:64344400-64349200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:64344400-64349200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:64344400-64349600	Weak transcription	Fetal Kidney	kidney
19	chr12:64344400-64349800	Weak transcription	Ovary	ovary
20	chr12:64344600-64349200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:64344600-64349200	Weak transcription	Liver	Liver
22	chr12:64344600-64349200	Weak transcription	Brain Substantia Nigra	brain
23	chr12:64344600-64349200	Weak transcription	Stomach Mucosa	stomach
24	chr12:64344600-64349400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:64344600-64349600	Weak transcription	Fetal Lung	lung
26	chr12:64344600-64349800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:64344600-64349800	Weak transcription	Left Ventricle	heart
28	chr12:64344600-64351600	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:64344600-64352400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:64344600-64359800	Weak transcription	Small Intestine	intestine
31	chr12:64344600-64363800	Weak transcription	Fetal Intestine Small	intestine
32	chr12:64344800-64349200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:64345400-64363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:64345800-64349200	Weak transcription	A549	lung
35	chr12:64346000-64349600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:64346000-64365400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:64346200-64349000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:64346400-64349600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:64347000-64350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:64347000-64355000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:64347000-64361400	Weak transcription	Brain Anterior Caudate	brain
42	chr12:64347200-64352200	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:64347400-64349200	Weak transcription	Fetal Brain Male	brain
44	chr12:64347600-64349000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:64347800-64350000	Weak transcription	Fetal Brain Female	brain
46	chr12:64348000-64349200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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