Variant report

Variant	rs62530673
Chromosome Location	chr8:125637327-125637328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125636094..125637667-chr8:125641302..125642987,2	MCF-7	breast:
2	chr8:125628049..125629556-chr8:125636539..125638565,2	MCF-7	breast:
3	chr8:125635175..125638018-chr8:125739345..125741656,2	MCF-7	breast:
4	chr8:125634912..125639122-chr8:125652761..125656973,4	K562	blood:
5	chr8:125552236..125554783-chr8:125637109..125639947,2	MCF-7	breast:
6	chr8:125636931..125639466-chr8:125722447..125724460,2	MCF-7	breast:
7	chr8:125635200..125638584-chr8:125825947..125829303,4	K562	blood:
8	chr8:125625102..125627021-chr8:125636879..125638991,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4464955	0.87[ASN][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	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125618000-125640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
3	chr8:125626400-125638800	Weak transcription	HMEC	breast
4	chr8:125629400-125640200	Enhancers	Fetal Brain Male	brain
5	chr8:125631800-125638200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:125631800-125638400	Weak transcription	Esophagus	oesophagus
7	chr8:125631800-125639200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:125631800-125639200	Weak transcription	Pancreas	Pancrea
9	chr8:125631800-125639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:125632000-125638600	Weak transcription	NHEK	skin
11	chr8:125632200-125638800	Weak transcription	Gastric	stomach
12	chr8:125632400-125640200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:125632400-125640600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:125633400-125637600	Weak transcription	Fetal Stomach	stomach
15	chr8:125633400-125638000	Weak transcription	Fetal Lung	lung
16	chr8:125633400-125639000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:125633400-125639600	Weak transcription	NHDF-Ad	bronchial
18	chr8:125633400-125643200	Weak transcription	Fetal Kidney	kidney
19	chr8:125633800-125637400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:125633800-125637600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:125633800-125638200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:125633800-125638600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:125633800-125638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:125633800-125639200	Weak transcription	Stomach Mucosa	stomach
25	chr8:125633800-125639600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:125633800-125641000	Weak transcription	Osteobl	bone
27	chr8:125633800-125642400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:125634200-125638000	Weak transcription	Psoas Muscle	Psoas
29	chr8:125634200-125639000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:125634200-125639600	Weak transcription	GM12878-XiMat	blood
31	chr8:125634400-125641800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:125634600-125637400	Weak transcription	Right Ventricle	heart
33	chr8:125634800-125639800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:125634800-125646600	Weak transcription	Primary T cells from cord blood	blood
35	chr8:125635400-125638400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:125635400-125639600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:125635400-125640600	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:125635800-125641000	Enhancers	Fetal Thymus	thymus
39	chr8:125635800-125641200	Enhancers	Fetal Muscle Trunk	muscle
40	chr8:125636200-125637800	Weak transcription	K562	blood
41	chr8:125636200-125638800	Enhancers	Fetal Muscle Leg	muscle
42	chr8:125636400-125638200	Strong transcription	HepG2	liver
43	chr8:125636400-125640600	Strong transcription	Fetal Intestine Small	intestine
44	chr8:125636400-125644400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr8:125636600-125639200	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr8:125636600-125639600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr8:125636600-125639800	Enhancers	Adipose Nuclei	Adipose
48	chr8:125636600-125639800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:125636600-125640000	Enhancers	Brain Angular Gyrus	brain
50	chr8:125636600-125640200	Enhancers	Right Atrium	heart

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