Variant report

Variant	rs56064951
Chromosome Location	chr8:49538282-49538283
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49533286..49535227-chr8:49536335..49539012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253702	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55997042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56303499	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[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	esv3361307	chr8:49536599-49540897	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49534000-49538600	Weak transcription	Fetal Kidney	kidney
2	chr8:49534400-49556000	Weak transcription	Pancreas	Pancrea
3	chr8:49534600-49538600	Weak transcription	Fetal Lung	lung
4	chr8:49534600-49538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:49534600-49538800	Weak transcription	Hela-S3	cervix
6	chr8:49534600-49539000	Weak transcription	A549	lung
7	chr8:49534600-49539800	Weak transcription	HSMM	muscle
8	chr8:49534600-49539800	Weak transcription	NH-A	brain
9	chr8:49534600-49539800	Weak transcription	Osteobl	bone
10	chr8:49534600-49540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:49534600-49543000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:49534800-49539000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:49534800-49539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:49534800-49539800	Weak transcription	NHLF	lung
15	chr8:49534800-49540000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:49535200-49539800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:49535200-49541000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:49535200-49541600	Weak transcription	Gastric	stomach
19	chr8:49536400-49539200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:49536600-49539800	Weak transcription	NHDF-Ad	bronchial
21	chr8:49536800-49538400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr8:49537000-49539200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:49537400-49538400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr8:49537400-49541800	Enhancers	Placenta	Placenta
25	chr8:49537600-49538400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:49537600-49547000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:49537800-49538600	Enhancers	Fetal Muscle Leg	muscle
28	chr8:49537800-49542400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:49538200-49538600	Weak transcription	HUVEC	blood vessel

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