Variant report

Variant	rs72724488
Chromosome Location	chr8:131405534-131405535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11779293	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34179841	0.96[ASN][1000 genomes]
rs34180756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34438161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34492373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34721219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35009497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35104220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35220844	0.96[ASN][1000 genomes]
rs35305115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35865490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60744896	1.00[ASN][1000 genomes]
rs72724472	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724475	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724476	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724478	1.00[ASN][1000 genomes]
rs72724483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724485	0.96[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv982153	chr8:131391067-131407495	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
3	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
4	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
5	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
6	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
7	chr8:131388600-131407200	Weak transcription	HSMM	muscle
8	chr8:131388800-131408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
10	chr8:131390400-131407200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:131390800-131407000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:131392400-131407600	Weak transcription	HSMMtube	muscle
13	chr8:131394200-131408800	Weak transcription	NH-A	brain
14	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
15	chr8:131396200-131408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:131396800-131408400	Weak transcription	Fetal Heart	heart
17	chr8:131397200-131407400	Weak transcription	Spleen	Spleen
18	chr8:131397400-131407200	Weak transcription	Ovary	ovary
19	chr8:131398200-131408400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:131398200-131413600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:131398600-131408200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:131398800-131408800	Weak transcription	Right Ventricle	heart
23	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
24	chr8:131399000-131407000	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:131399200-131407000	Weak transcription	Fetal Stomach	stomach
26	chr8:131399200-131407200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:131399200-131407200	Weak transcription	Left Ventricle	heart
28	chr8:131399200-131408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:131399200-131408800	Weak transcription	Brain Anterior Caudate	brain
30	chr8:131399400-131408600	Weak transcription	Fetal Lung	lung
31	chr8:131399400-131409600	Weak transcription	HMEC	breast
32	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:131399600-131407000	Weak transcription	Lung	lung
34	chr8:131401200-131408800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:131401600-131407000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:131401600-131407000	Weak transcription	Placenta	Placenta
37	chr8:131401600-131407200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:131401600-131407200	Weak transcription	NHEK	skin
39	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:131401800-131405600	Strong transcription	A549	lung
41	chr8:131401800-131407200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:131402000-131407000	Weak transcription	NHDF-Ad	bronchial
43	chr8:131402200-131407000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:131402600-131405600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:131402600-131405600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:131402600-131418000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:131402800-131405800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:131402800-131407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:131403800-131405600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:131404000-131405600	Enhancers	HUES6 Cell Line	embryonic stem cell

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