Variant report

Variant	rs2128833
Chromosome Location	chr2:20618441-20618442
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	chr2:20616643..20618657-chr2:20618688..20621631,2	MCF-7	breast:
2	chr2:20611214..20614002-chr2:20617108..20620081,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11901184	0.87[CEU][hapmap]
rs12466143	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12471220	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12471293	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12477228	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13034962	0.88[CHD][hapmap]
rs2128832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343142	0.87[CEU][hapmap]
rs343152	0.83[CEU][hapmap]
rs67464308	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7563890	0.87[CEU][hapmap]

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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20610400-20621000	Weak transcription	Left Ventricle	heart
2	chr2:20614200-20618800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:20615600-20619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:20615600-20619000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:20615600-20619600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:20615600-20621000	Weak transcription	Esophagus	oesophagus
7	chr2:20615600-20621000	Weak transcription	NHDF-Ad	bronchial
8	chr2:20615600-20621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:20615600-20624200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:20615800-20619000	Weak transcription	Placenta	Placenta
11	chr2:20615800-20621400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:20616000-20618800	Weak transcription	HMEC	breast
13	chr2:20616000-20618800	Weak transcription	K562	blood
14	chr2:20616000-20619000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:20616000-20621200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:20616000-20621400	Weak transcription	NHEK	skin
17	chr2:20616200-20619600	Enhancers	Liver	Liver
18	chr2:20616400-20618800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:20617000-20618800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:20617000-20621600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:20617200-20618800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:20617200-20623400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:20618000-20618800	Enhancers	Adipose Nuclei	Adipose
24	chr2:20618200-20618800	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:20618200-20619200	Enhancers	Small Intestine	intestine
26	chr2:20618200-20620000	Flanking Active TSS	HepG2	liver
27	chr2:20618200-20625800	Enhancers	Fetal Muscle Leg	muscle
28	chr2:20618200-20626000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:20618400-20618600	Enhancers	Fetal Intestine Small	intestine
30	chr2:20618400-20618800	Enhancers	Fetal Lung	lung
31	chr2:20618400-20619000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:20618400-20619000	Enhancers	HSMM	muscle
33	chr2:20618400-20619200	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:20618400-20619200	Enhancers	Colon Smooth Muscle	Colon
35	chr2:20618400-20619200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr2:20618400-20619400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:20618400-20619400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:20618400-20619400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:20618400-20619400	Enhancers	Stomach Mucosa	stomach
40	chr2:20618400-20619800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:20618400-20619800	Enhancers	Colonic Mucosa	Colon
42	chr2:20618400-20619800	Enhancers	Ovary	ovary
43	chr2:20618400-20619800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr2:20618400-20620000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:20618400-20620000	Enhancers	HSMMtube	muscle
46	chr2:20618400-20620200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:20618400-20620200	Enhancers	Fetal Stomach	stomach
48	chr2:20618400-20620200	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:20618400-20626000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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