Variant report

Variant	rs12210711
Chromosome Location	chr6:79339289-79339290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1012026	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1012027	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10455349	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10806133	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10943547	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10943548	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10943549	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12197137	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201840	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12209692	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12213548	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12530353	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530368	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1395446	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1395447	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1407102	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1567095	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567096	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1567097	0.95[ASN][1000 genomes]
rs1570075	0.95[ASN][1000 genomes]
rs16890224	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16890230	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1995650	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2063045	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202588	0.87[ASN][1000 genomes]
rs2321764	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs236852	0.89[ASN][1000 genomes]
rs236853	1.00[ASN][1000 genomes]
rs236855	0.99[ASN][1000 genomes]
rs236859	1.00[ASN][1000 genomes]
rs236882	0.96[ASN][1000 genomes]
rs236884	0.97[ASN][1000 genomes]
rs236886	0.99[ASN][1000 genomes]
rs5018093	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs699182	0.99[ASN][1000 genomes]
rs717364	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755578	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7763429	0.91[ASN][1000 genomes]
rs9361413	0.91[ASN][1000 genomes]
rs9361414	0.91[ASN][1000 genomes]
rs984157	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886235	chr6:78861808-79369972	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv604011	chr6:79042990-79455282	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv886300	chr6:79129963-79341891	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1028767	chr6:79200713-79341224	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79338600-79339400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
2	chr6:79338600-79339600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:79338600-79339600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:79338600-79339600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:79338600-79339600	Active TSS	Brain Cingulate Gyrus	brain
6	chr6:79338600-79339600	Active TSS	Brain Hippocampus Middle	brain
7	chr6:79338600-79339600	Active TSS	NHDF-Ad	bronchial
8	chr6:79338600-79339600	Active TSS	Osteobl	bone
9	chr6:79338600-79339800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:79338800-79339400	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr6:79338800-79339400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:79338800-79339400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:79338800-79339400	Active TSS	Brain Germinal Matrix	brain
14	chr6:79338800-79339400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:79338800-79339400	Active TSS	Colonic Mucosa	Colon
16	chr6:79338800-79339400	Active TSS	Duodenum Mucosa	Duodenum
17	chr6:79338800-79339400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr6:79338800-79339400	Active TSS	Fetal Kidney	kidney
19	chr6:79338800-79339400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:79338800-79339400	Active TSS	Fetal Lung	lung
21	chr6:79338800-79339400	Active TSS	Fetal Muscle Leg	muscle
22	chr6:79338800-79339400	Active TSS	Fetal Stomach	stomach
23	chr6:79338800-79339400	Flanking Active TSS	Pancreas	Pancrea
24	chr6:79338800-79339400	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr6:79338800-79339400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
26	chr6:79338800-79339400	Active TSS	HSMMtube	muscle
27	chr6:79338800-79339400	Active TSS	NHEK	skin
28	chr6:79338800-79339600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr6:79338800-79339600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:79338800-79339600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:79338800-79339600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr6:79338800-79339600	Active TSS	Aorta	Aorta
33	chr6:79338800-79339600	Active TSS	Brain Angular Gyrus	brain
34	chr6:79338800-79339600	Active TSS	Brain Anterior Caudate	brain
35	chr6:79338800-79339600	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr6:79338800-79339600	Active TSS	Brain Substantia Nigra	brain
37	chr6:79338800-79339600	Active TSS	Colon Smooth Muscle	Colon
38	chr6:79338800-79339600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr6:79338800-79339600	Active TSS	Fetal Brain Female	brain
40	chr6:79338800-79339600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr6:79338800-79339600	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr6:79338800-79339600	Active TSS	Rectal Smooth Muscle	rectum
43	chr6:79338800-79339600	Active TSS	Right Ventricle	heart
44	chr6:79338800-79339600	Active TSS	HSMM	muscle
45	chr6:79338800-79339600	Active TSS	HUVEC	blood vessel
46	chr6:79338800-79339600	Active TSS	NHLF	lung
47	chr6:79339000-79339400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr6:79339000-79339400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:79339000-79339400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:79339000-79339400	Active TSS	Fetal Heart	heart

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