Variant report

Variant	rs55688371
Chromosome Location	chr8:124535823-124535824
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	chr8:124533840..124537820-chr8:124538381..124541976,5	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28410269	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28567692	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61559825	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834179	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124510200-124549200	Weak transcription	Fetal Brain Male	brain
2	chr8:124512000-124542200	Weak transcription	Liver	Liver
3	chr8:124515600-124543600	Weak transcription	Brain Germinal Matrix	brain
4	chr8:124520800-124542200	Weak transcription	Lung	lung
5	chr8:124525800-124542400	Weak transcription	Fetal Brain Female	brain
6	chr8:124526400-124537600	Weak transcription	Gastric	stomach
7	chr8:124529600-124536200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:124529600-124541800	Weak transcription	Placenta	Placenta
9	chr8:124529600-124542200	Weak transcription	Pancreas	Pancrea
10	chr8:124529600-124542400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:124529600-124542400	Weak transcription	Spleen	Spleen
12	chr8:124529800-124537000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:124529800-124537400	Weak transcription	Stomach Mucosa	stomach
14	chr8:124530000-124537200	Weak transcription	Fetal Intestine Small	intestine
15	chr8:124530000-124542200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:124530000-124547200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:124530000-124547600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:124530400-124537200	Weak transcription	Small Intestine	intestine
19	chr8:124530400-124537400	Weak transcription	Colonic Mucosa	Colon
20	chr8:124530400-124546200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:124530800-124537200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:124531000-124536000	Weak transcription	Adipose Nuclei	Adipose
23	chr8:124531000-124536800	Weak transcription	Brain Substantia Nigra	brain
24	chr8:124531000-124546000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:124532200-124542800	Genic enhancers	Colon Smooth Muscle	Colon
26	chr8:124532200-124543600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:124532800-124537000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:124532800-124537200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:124532800-124542200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:124533000-124541600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:124533200-124536400	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:124533200-124537200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:124533400-124536000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:124533400-124536600	Weak transcription	Right Ventricle	heart
35	chr8:124533400-124537000	Weak transcription	NHDF-Ad	bronchial
36	chr8:124533400-124543600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:124533600-124540400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:124533600-124540400	Weak transcription	HSMM	muscle
39	chr8:124533800-124537200	Weak transcription	NH-A	brain
40	chr8:124533800-124552000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:124534000-124536800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:124534000-124539200	Weak transcription	Thymus	Thymus
43	chr8:124534000-124539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:124534200-124536400	Weak transcription	Brain Angular Gyrus	brain
45	chr8:124534200-124536800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:124534200-124537000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:124534200-124537200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:124534200-124539600	Weak transcription	HMEC	breast
49	chr8:124534200-124542200	Weak transcription	Fetal Thymus	thymus
50	chr8:124534200-124542400	Strong transcription	HSMMtube	muscle

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