Variant report

Variant	rs58292015
Chromosome Location	chr12:26350124-26350125
allele	A/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:18)

rs_ID	r²[population]
rs12818979	1.00[ASN][1000 genomes]
rs12822290	1.00[ASN][1000 genomes]
rs12827659	1.00[ASN][1000 genomes]
rs12829316	1.00[ASN][1000 genomes]
rs1531649	1.00[ASN][1000 genomes]
rs17380788	1.00[ASN][1000 genomes]
rs2343870	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34371272	1.00[ASN][1000 genomes]
rs34753809	1.00[ASN][1000 genomes]
rs4963970	1.00[ASN][1000 genomes]
rs57749967	0.89[ASN][1000 genomes]
rs57948457	0.89[ASN][1000 genomes]
rs58769131	0.89[ASN][1000 genomes]
rs59631457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61139398	0.89[ASN][1000 genomes]
rs71438624	0.82[ASN][1000 genomes]
rs73292989	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73292998	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26348000-26350200	Active TSS	Fetal Muscle Leg	muscle
2	chr12:26348000-26350200	Active TSS	Right Atrium	heart
3	chr12:26349200-26350200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:26349200-26350200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:26349200-26350200	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr12:26349200-26350200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr12:26349200-26350200	Flanking Active TSS	HSMMtube	muscle
8	chr12:26349200-26350800	Weak transcription	Pancreas	Pancrea
9	chr12:26349200-26352000	Weak transcription	Spleen	Spleen
10	chr12:26349400-26350200	Flanking Active TSS	Fetal Heart	heart
11	chr12:26349400-26350200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr12:26349400-26350800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:26349400-26350800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:26349400-26351000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:26349400-26352000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:26349400-26352200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:26349600-26350800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:26349600-26350800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:26349600-26350800	Weak transcription	Fetal Intestine Large	intestine
20	chr12:26349600-26350800	Weak transcription	NHEK	skin
21	chr12:26349600-26351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:26349600-26351400	Weak transcription	A549	lung
23	chr12:26349600-26351600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:26349600-26351600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:26349600-26351800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:26349600-26358000	Weak transcription	Fetal Intestine Small	intestine
27	chr12:26349800-26350200	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr12:26349800-26350200	Enhancers	NHDF-Ad	bronchial
29	chr12:26349800-26350400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:26349800-26350600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:26349800-26350600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr12:26349800-26350800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:26349800-26350800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:26349800-26350800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:26349800-26350800	Weak transcription	Left Ventricle	heart
36	chr12:26349800-26350800	Weak transcription	Psoas Muscle	Psoas
37	chr12:26349800-26350800	Weak transcription	HMEC	breast
38	chr12:26349800-26351200	Enhancers	Adipose Nuclei	Adipose
39	chr12:26349800-26351200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:26349800-26351200	Enhancers	Fetal Lung	lung
41	chr12:26349800-26351600	Weak transcription	Esophagus	oesophagus
42	chr12:26349800-26351800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:26349800-26351800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:26349800-26352400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:26349800-26352600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:26349800-26352600	Enhancers	Osteobl	bone
47	chr12:26349800-26356600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:26349800-26357400	Weak transcription	Ovary	ovary
49	chr12:26349800-26358000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:26350000-26350600	Enhancers	NHLF	lung

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