Variant report

Variant	rs7832888
Chromosome Location	chr8:131388115-131388116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131383872..131386552-chr8:131387073..131389271,2	K562	blood:

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

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

rs_ID	r²[population]
rs10086773	0.88[EUR][1000 genomes]
rs10099549	0.81[EUR][1000 genomes]
rs10956523	0.87[EUR][1000 genomes]
rs11784041	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11984909	0.86[ASN][1000 genomes]
rs13272051	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34334020	0.82[ASN][1000 genomes]
rs4504679	0.88[EUR][1000 genomes]
rs4526396	0.87[ASN][1000 genomes]
rs4609234	0.91[EUR][1000 genomes]
rs5027392	0.88[EUR][1000 genomes]
rs6994854	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007359	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7011509	0.90[ASN][1000 genomes]
rs7016144	0.90[ASN][1000 genomes]
rs7822048	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
2	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
4	chr8:131371800-131389800	Weak transcription	Fetal Stomach	stomach
5	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:131371800-131396400	Weak transcription	HepG2	liver
7	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
8	chr8:131373800-131389600	Weak transcription	Placenta	Placenta
9	chr8:131374600-131390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
11	chr8:131377400-131390600	Weak transcription	Left Ventricle	heart
12	chr8:131380400-131388200	Weak transcription	NH-A	brain
13	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:131381400-131400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:131382600-131398800	Weak transcription	Lung	lung
16	chr8:131382800-131390200	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:131383200-131388200	Weak transcription	NHDF-Ad	bronchial
18	chr8:131383200-131388400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:131383200-131390000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:131383200-131392000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:131383200-131396600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:131383200-131397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:131383800-131393200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
25	chr8:131384000-131400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:131384200-131390400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:131384600-131388600	Strong transcription	A549	lung
28	chr8:131384600-131397000	Weak transcription	Ovary	ovary
29	chr8:131384800-131389600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
31	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
32	chr8:131385000-131388200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:131385000-131388200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:131385000-131392000	Weak transcription	Esophagus	oesophagus
35	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
36	chr8:131386600-131388400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:131386600-131388400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:131386600-131388800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:131387000-131398000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:131387200-131388200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:131387400-131388600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:131387400-131388600	Enhancers	HSMMtube	muscle
43	chr8:131387400-131390800	Weak transcription	HUVEC	blood vessel
44	chr8:131387600-131388200	Weak transcription	NHLF	lung
45	chr8:131387600-131389600	Weak transcription	NHEK	skin
46	chr8:131387800-131388600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:131387800-131388600	Enhancers	HMEC	breast
48	chr8:131387800-131388600	Enhancers	HSMM	muscle
49	chr8:131387800-131388600	Enhancers	Osteobl	bone
50	chr8:131387800-131388800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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