Variant report

Variant	rs28698062
Chromosome Location	chr2:20619570-20619571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20616643..20618657-chr2:20618688..20621631,2	MCF-7	breast:
2	chr2:20570098..20572702-chr2:20619357..20621600,2	MCF-7	breast:
3	chr2:20611214..20614002-chr2:20617108..20620081,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13386032	1.00[EUR][1000 genomes]
rs58564199	1.00[EUR][1000 genomes]
rs6713288	1.00[EUR][1000 genomes]
rs6744648	1.00[EUR][1000 genomes]
rs73218153	1.00[EUR][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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20610400-20621000	Weak transcription	Left Ventricle	heart
2	chr2:20615600-20619600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:20615600-20621000	Weak transcription	Esophagus	oesophagus
4	chr2:20615600-20621000	Weak transcription	NHDF-Ad	bronchial
5	chr2:20615600-20621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:20615600-20624200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:20615800-20621400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:20616000-20621200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:20616000-20621400	Weak transcription	NHEK	skin
10	chr2:20616200-20619600	Enhancers	Liver	Liver
11	chr2:20617000-20621600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:20617200-20623400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:20618200-20620000	Flanking Active TSS	HepG2	liver
14	chr2:20618200-20625800	Enhancers	Fetal Muscle Leg	muscle
15	chr2:20618200-20626000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:20618400-20619800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:20618400-20619800	Enhancers	Colonic Mucosa	Colon
18	chr2:20618400-20619800	Enhancers	Ovary	ovary
19	chr2:20618400-20619800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:20618400-20620000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:20618400-20620000	Enhancers	HSMMtube	muscle
22	chr2:20618400-20620200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:20618400-20620200	Enhancers	Fetal Stomach	stomach
24	chr2:20618400-20620200	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:20618400-20626000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:20618800-20619800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:20618800-20620000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:20618800-20620000	Enhancers	Fetal Kidney	kidney
29	chr2:20618800-20620200	Enhancers	NHLF	lung
30	chr2:20618800-20623400	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:20619000-20619600	Enhancers	Placenta	Placenta
32	chr2:20619000-20619800	Enhancers	Lung	lung
33	chr2:20619000-20620000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:20619000-20620000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:20619000-20620200	Flanking Active TSS	HSMM	muscle
36	chr2:20619000-20622000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:20619200-20619600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:20619200-20619600	Enhancers	Adipose Nuclei	Adipose
39	chr2:20619200-20619600	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:20619200-20619800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:20619200-20619800	Enhancers	Right Atrium	heart
42	chr2:20619200-20621000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:20619200-20621200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:20619200-20621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:20619200-20621200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:20619200-20621200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:20619200-20621400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:20619200-20621400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:20619200-20621400	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:20619200-20621400	Weak transcription	Brain Substantia Nigra	brain

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