Variant report

Variant	rs72724494
Chromosome Location	chr8:131407542-131407543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10098396	0.81[EUR][1000 genomes]
rs10098622	0.81[EUR][1000 genomes]
rs10103280	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11778323	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11786359	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16904259	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2791350	0.84[EUR][1000 genomes]
rs2943086	0.81[EUR][1000 genomes]
rs35977498	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4733575	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72726224	0.83[EUR][1000 genomes]
rs73713907	0.82[EUR][1000 genomes]
rs7816836	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][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	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

No data

Chromatin state (count:78 , 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	chr8:131388800-131408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
9	chr8:131392400-131407600	Weak transcription	HSMMtube	muscle
10	chr8:131394200-131408800	Weak transcription	NH-A	brain
11	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
12	chr8:131396200-131408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:131396800-131408400	Weak transcription	Fetal Heart	heart
14	chr8:131398200-131408400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:131398200-131413600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:131398600-131408200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:131398800-131408800	Weak transcription	Right Ventricle	heart
18	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
19	chr8:131399200-131408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:131399200-131408800	Weak transcription	Brain Anterior Caudate	brain
21	chr8:131399400-131408600	Weak transcription	Fetal Lung	lung
22	chr8:131399400-131409600	Weak transcription	HMEC	breast
23	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:131401200-131408800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:131402600-131418000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:131405200-131407600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:131405200-131410000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:131405600-131408400	Weak transcription	Osteobl	bone
30	chr8:131405600-131408800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:131405600-131408800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:131405600-131409000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:131405600-131410800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:131405600-131412800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:131406400-131408800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:131406600-131407600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:131406600-131408400	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:131406800-131407800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:131406800-131417000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:131407000-131407600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:131407000-131407600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:131407000-131407600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:131407000-131407800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr8:131407000-131407800	Genic enhancers	Lung	lung
47	chr8:131407000-131407800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr8:131407000-131407800	Strong transcription	HepG2	liver
49	chr8:131407000-131407800	Genic enhancers	NHDF-Ad	bronchial
50	chr8:131407000-131408000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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