Variant report

Variant	rs72724497
Chromosome Location	chr8:131409752-131409753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131408686..131411047-chr8:131413909..131416189,2	K562	blood:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11781126	0.84[AMR][1000 genomes]
rs11784783	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11784953	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16904265	0.94[AFR][1000 genomes]
rs34179841	0.87[EUR][1000 genomes]
rs35220844	0.87[EUR][1000 genomes]
rs60744896	0.87[EUR][1000 genomes]
rs72724478	0.87[EUR][1000 genomes]
rs72724485	0.87[EUR][1000 genomes]
rs72724491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726219	0.88[EUR][1000 genomes]
rs72726221	0.86[EUR][1000 genomes]
rs72726230	0.86[EUR][1000 genomes]
rs7816470	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7817038	0.88[AMR][1000 genomes];0.89[EUR][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
3	chr8:131398200-131413600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
5	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:131402600-131418000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:131405200-131410000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:131405600-131410800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:131405600-131412800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:131406800-131417000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:131407000-131410200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:131407000-131414600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:131407200-131414400	Strong transcription	NHEK	skin
17	chr8:131407200-131414800	Strong transcription	A549	lung
18	chr8:131407400-131413600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:131407400-131419600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:131407600-131410000	Enhancers	HSMMtube	muscle
21	chr8:131407600-131410200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:131407800-131409800	Enhancers	Fetal Muscle Leg	muscle
23	chr8:131407800-131410200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:131407800-131416800	Weak transcription	HepG2	liver
25	chr8:131407800-131417000	Weak transcription	Lung	lung
26	chr8:131407800-131419400	Weak transcription	Spleen	Spleen
27	chr8:131408000-131409800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:131408000-131409800	Enhancers	Placenta	Placenta
29	chr8:131408000-131410000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:131408000-131412200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:131408200-131410000	Enhancers	Adipose Nuclei	Adipose
33	chr8:131408400-131409800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:131408400-131411000	Enhancers	Fetal Heart	heart
35	chr8:131408600-131410000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:131408800-131410200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:131408800-131410200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:131408800-131413000	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr8:131409000-131409800	Weak transcription	HSMM	muscle
40	chr8:131409000-131413800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:131409000-131416800	Weak transcription	Fetal Kidney	kidney
42	chr8:131409200-131409800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:131409200-131412200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:131409200-131416800	Weak transcription	NH-A	brain
45	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
47	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:131409400-131409800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:131409400-131409800	Weak transcription	Ovary	ovary

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