Variant report

Variant	rs73330464
Chromosome Location	chr8:125786495-125786496
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125783670..125786724-chr8:125787863..125791688,3	K562	blood:
2	chr8:125784279..125787220-chr8:125787863..125791688,4	K562	blood:
3	chr8:125784252..125789525-chr8:125791354..125795581,7	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10100875	0.95[AFR][1000 genomes]
rs10103527	0.95[AFR][1000 genomes]
rs28507479	0.86[AFR][1000 genomes]
rs57470157	0.87[AFR][1000 genomes]
rs59305035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59782834	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60050058	0.95[AFR][1000 genomes]
rs73330458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73347087	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125774200-125795800	Weak transcription	Pancreas	Pancrea
2	chr8:125779000-125788000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125783600-125787400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:125783600-125788800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:125784800-125786800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:125784800-125786800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:125784800-125787600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:125784800-125787800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:125784800-125787800	Weak transcription	Brain Angular Gyrus	brain
10	chr8:125784800-125787800	Weak transcription	Lung	lung
11	chr8:125784800-125788000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:125784800-125788200	Weak transcription	Spleen	Spleen
13	chr8:125785000-125786600	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:125785000-125787600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:125785000-125787600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:125785000-125787600	Enhancers	HepG2	liver
17	chr8:125785000-125787800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:125785000-125787800	Weak transcription	Brain Anterior Caudate	brain
19	chr8:125785000-125787800	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:125785000-125787800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:125785000-125787800	Weak transcription	Brain Substantia Nigra	brain
22	chr8:125785000-125788000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:125785000-125788200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:125785000-125788200	Weak transcription	Fetal Intestine Large	intestine
25	chr8:125785000-125788200	Weak transcription	Right Atrium	heart
26	chr8:125785000-125788200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:125785000-125791200	Weak transcription	Placenta	Placenta
28	chr8:125785000-125793000	Weak transcription	Esophagus	oesophagus
29	chr8:125785000-125793200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:125785000-125794000	Weak transcription	Primary B cells from cord blood	blood
31	chr8:125785000-125794600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:125785600-125787600	Weak transcription	Left Ventricle	heart
33	chr8:125785600-125787800	Weak transcription	Psoas Muscle	Psoas
34	chr8:125785600-125787800	Weak transcription	NHDF-Ad	bronchial
35	chr8:125785600-125788000	Weak transcription	Right Ventricle	heart
36	chr8:125785600-125788200	Weak transcription	NHLF	lung
37	chr8:125785800-125786600	Enhancers	Fetal Heart	heart
38	chr8:125786200-125787800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:125786200-125788200	Weak transcription	Adipose Nuclei	Adipose
40	chr8:125786400-125787000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:125786400-125787800	Weak transcription	Fetal Lung	lung

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