Variant report

Variant	rs72726232
Chromosome Location	chr8:131453438-131453439
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11774346	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11785125	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56162445	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56350423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6981708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724412	0.81[AMR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726220	0.97[EUR][1000 genomes]
rs72726223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72726240	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72726241	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72726244	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7836273	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];0.87[AMR][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
2	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:131444000-131454400	Weak transcription	Liver	Liver
4	chr8:131444000-131455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:131447400-131455000	Weak transcription	Pancreas	Pancrea
6	chr8:131449400-131453600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:131449400-131454400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:131450200-131454600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:131450200-131454800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:131450200-131454800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:131450200-131454800	Weak transcription	HSMMtube	muscle
12	chr8:131450200-131456000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:131450400-131454000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:131450400-131454400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:131450400-131454800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:131450400-131455000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:131450600-131453600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:131450800-131453600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:131450800-131454200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:131450800-131454200	Weak transcription	Fetal Heart	heart
21	chr8:131451000-131453600	Strong transcription	Fetal Stomach	stomach
22	chr8:131451200-131453800	Weak transcription	Adipose Nuclei	Adipose
23	chr8:131451200-131453800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr8:131451200-131454800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:131451400-131454000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:131451800-131454200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:131452200-131453600	Enhancers	Brain Angular Gyrus	brain
28	chr8:131452200-131453600	Weak transcription	NH-A	brain
29	chr8:131452200-131454200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:131452200-131454200	Enhancers	Brain Anterior Caudate	brain
31	chr8:131452400-131453600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:131452400-131453600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:131452400-131453600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:131452400-131453600	Genic enhancers	NHEK	skin
35	chr8:131452400-131454000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:131452400-131454000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:131452400-131454000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:131452400-131454200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:131452400-131454400	Weak transcription	Fetal Kidney	kidney
40	chr8:131452400-131454400	Weak transcription	HSMM	muscle
41	chr8:131452400-131454800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:131452400-131454800	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:131452800-131453600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
44	chr8:131452800-131453800	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr8:131452800-131453800	Genic enhancers	HepG2	liver
46	chr8:131452800-131454000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr8:131452800-131454000	Genic enhancers	Left Ventricle	heart
48	chr8:131452800-131454200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:131452800-131454400	Enhancers	Fetal Brain Male	brain
50	chr8:131452800-131454400	Enhancers	Ovary	ovary

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