Variant report

Variant	rs62530692
Chromosome Location	chr8:125658909-125658910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125648736..125650497-chr8:125657454..125659913,2	MCF-7	breast:
2	chr8:125653729..125655984-chr8:125656815..125658941,3	K562	blood:
3	chr8:125649125..125655229-chr8:125655458..125659458,6	K562	blood:
4	chr8:125657106..125660493-chr8:125825851..125829394,4	K562	blood:
5	chr8:125658235..125661140-chr8:125662893..125664695,2	K562	blood:
6	chr8:125628662..125631478-chr8:125658483..125661336,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11783312	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11785482	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4007936	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871527	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57174114	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59676492	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997870	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73343952	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7843950	1.00[EUR][1000 genomes];0.95[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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	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
3	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:125645600-125661800	Enhancers	Fetal Thymus	thymus
4	chr8:125646600-125659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:125649800-125660200	Weak transcription	Right Ventricle	heart
6	chr8:125649800-125662800	Weak transcription	Pancreas	Pancrea
7	chr8:125650000-125665200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:125650000-125665200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:125650000-125666800	Weak transcription	Esophagus	oesophagus
10	chr8:125650800-125660600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:125651000-125660200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:125651400-125663400	Weak transcription	Placenta	Placenta
13	chr8:125653800-125661200	Weak transcription	Brain Substantia Nigra	brain
14	chr8:125654000-125661000	Weak transcription	Psoas Muscle	Psoas
15	chr8:125654000-125666800	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:125654800-125660200	Weak transcription	Brain Anterior Caudate	brain
17	chr8:125655000-125661000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:125655000-125666800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:125655000-125672200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:125655200-125660000	Weak transcription	Left Ventricle	heart
21	chr8:125655200-125660200	Weak transcription	Spleen	Spleen
22	chr8:125655200-125661400	Weak transcription	Right Atrium	heart
23	chr8:125655200-125666400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:125655200-125667400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:125655200-125667400	Weak transcription	NHDF-Ad	bronchial
26	chr8:125655400-125661600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:125655600-125663000	Weak transcription	Stomach Mucosa	stomach
28	chr8:125655800-125661400	Weak transcription	Lung	lung
29	chr8:125656000-125659000	Enhancers	Fetal Heart	heart
30	chr8:125656400-125660000	Weak transcription	Brain Angular Gyrus	brain
31	chr8:125656400-125661800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:125656600-125661400	Weak transcription	Adipose Nuclei	Adipose
33	chr8:125656800-125660400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:125656800-125660600	Enhancers	Primary B cells from cord blood	blood
35	chr8:125656800-125666200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:125656800-125666200	Weak transcription	HMEC	breast
37	chr8:125657000-125659200	Enhancers	Thymus	Thymus
38	chr8:125657000-125659800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:125657000-125660000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:125657000-125660000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:125657000-125660200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:125657000-125660200	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:125657000-125660600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:125657000-125661000	Weak transcription	HUVEC	blood vessel
45	chr8:125657000-125661600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:125657000-125661600	Weak transcription	Fetal Brain Female	brain
47	chr8:125657000-125667400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:125657000-125667600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:125657200-125660200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:125657200-125660200	Weak transcription	Liver	Liver

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