Variant report

Variant	rs2568538
Chromosome Location	chr5:57076860-57076861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57076424..57079221-chr5:57153690..57156496,2	MCF-7	breast:
2	chr5:57076851..57079934-chr5:57754416..57757350,4	MCF-7	breast:
3	chr5:57073503..57077581-chr5:57182588..57186166,4	MCF-7	breast:
4	chr5:57074121..57076922-chr5:57158153..57160204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11954248	0.84[ASN][1000 genomes]
rs12515541	0.83[ASN][1000 genomes]
rs759215	0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	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	chr5:57072600-57079600	Weak transcription	Ovary	ovary
2	chr5:57073200-57077000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:57074000-57077000	Enhancers	Fetal Heart	heart
4	chr5:57074200-57077000	Enhancers	Stomach Mucosa	stomach
5	chr5:57075400-57077400	Enhancers	Fetal Muscle Leg	muscle
6	chr5:57075400-57080400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:57075600-57077000	Enhancers	Adipose Nuclei	Adipose
8	chr5:57076000-57077000	Enhancers	Spleen	Spleen
9	chr5:57076000-57078200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:57076400-57077000	Enhancers	HUVEC	blood vessel
11	chr5:57076400-57078200	Weak transcription	HSMM	muscle
12	chr5:57076400-57078800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:57076400-57078800	Weak transcription	Brain Anterior Caudate	brain
14	chr5:57076400-57078800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:57076400-57078800	Weak transcription	Osteobl	bone
16	chr5:57076400-57079200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:57076400-57079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:57076400-57079400	Weak transcription	Aorta	Aorta
19	chr5:57076400-57080200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:57076400-57081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:57076600-57077000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:57076600-57078200	Weak transcription	Placenta	Placenta
23	chr5:57076600-57078600	Weak transcription	NHDF-Ad	bronchial
24	chr5:57076600-57078800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:57076600-57078800	Weak transcription	HSMMtube	muscle
26	chr5:57076600-57079000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:57076600-57079000	Weak transcription	Fetal Lung	lung
28	chr5:57076600-57079600	Weak transcription	Right Atrium	heart
29	chr5:57076600-57079600	Weak transcription	HMEC	breast

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