Variant report

Variant	rs72862691
Chromosome Location	chr2:31552341-31552342
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	chr2:31375968..31378300-chr2:31551253..31553701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158089	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72862627	1.00[AMR][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2762446	chr2:31521093-31610311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31528200-31554000	Weak transcription	Right Ventricle	heart
2	chr2:31547800-31552400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:31547800-31556200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:31548000-31556000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:31548000-31556000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:31548000-31556200	Weak transcription	Liver	Liver
7	chr2:31548000-31556400	Weak transcription	HMEC	breast
8	chr2:31548000-31557600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:31548000-31558400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:31548200-31553600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:31548400-31558600	Weak transcription	NHEK	skin
13	chr2:31550400-31552800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:31550600-31553600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:31551600-31552400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr2:31551800-31552400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:31551800-31552400	Enhancers	Lung	lung
18	chr2:31551800-31552800	Enhancers	Stomach Mucosa	stomach
19	chr2:31551800-31553000	Enhancers	Fetal Intestine Small	intestine
20	chr2:31552000-31552400	Enhancers	Small Intestine	intestine
21	chr2:31552000-31553400	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:31552200-31552400	Enhancers	Fetal Muscle Trunk	muscle
23	chr2:31552200-31552600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:31552200-31552800	Enhancers	Fetal Intestine Large	intestine
25	chr2:31552200-31554000	Weak transcription	Fetal Heart	heart

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