Variant report

Variant	rs5762196
Chromosome Location	chr22:27883841-27883842
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	chr22:27801836..27802493-chr22:27883347..27884309,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17464499	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs5752563	0.90[ASN][1000 genomes]
rs5762202	0.94[ASN][1000 genomes]
rs5762204	0.81[ASN][1000 genomes]
rs5762206	0.94[ASN][1000 genomes]
rs926838	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27871800-27884600	Weak transcription	Right Atrium	heart
2	chr22:27873000-27884600	Weak transcription	Gastric	stomach
3	chr22:27876800-27884800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:27877000-27884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:27879000-27884000	Weak transcription	Ovary	ovary
6	chr22:27880000-27895200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:27882000-27884800	Weak transcription	NHEK	skin
8	chr22:27883400-27885600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:27883400-27886000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:27883400-27886000	Enhancers	Fetal Intestine Large	intestine
11	chr22:27883400-27886200	Enhancers	Fetal Intestine Small	intestine
12	chr22:27883400-27886200	Enhancers	NH-A	brain
13	chr22:27883600-27884200	Bivalent Enhancer	Placenta	Placenta
14	chr22:27883600-27884400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr22:27883600-27884400	Bivalent Enhancer	Fetal Stomach	stomach
16	chr22:27883600-27884400	Enhancers	Lung	lung
17	chr22:27883600-27884800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:27883600-27885200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:27883600-27885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr22:27883600-27885800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:27883600-27886000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:27883600-27886200	Enhancers	NHLF	lung
23	chr22:27883800-27884000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:27883800-27884000	Enhancers	A549	lung
25	chr22:27883800-27884400	Weak transcription	Fetal Kidney	kidney
26	chr22:27883800-27885200	Enhancers	Fetal Lung	lung
27	chr22:27883800-27885800	Enhancers	Stomach Mucosa	stomach
28	chr22:27883800-27885800	Enhancers	Osteobl	bone
29	chr22:27883800-27886200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr22:27883800-27886400	Enhancers	Pancreas	Pancrea
31	chr22:27883800-27886400	Enhancers	HepG2	liver

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