Variant report

Variant	rs6744648
Chromosome Location	chr2:20623016-20623017
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20595575..20596417-chr2:20622317..20623312,3	MCF-7	breast:
2	chr2:20622359..20625162-chr2:20646230..20647931,2	MCF-7	breast:
3	chr2:20620305..20623674-chr2:20644308..20648225,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13386032	1.00[EUR][1000 genomes]
rs28698062	1.00[EUR][1000 genomes]
rs58564199	1.00[EUR][1000 genomes]
rs6713280	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6713288	1.00[EUR][1000 genomes]
rs73218153	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455830	chr2:20621404-20659862	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv581166	chr2:20621404-20659862	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20615600-20624200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20617200-20623400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:20618200-20625800	Enhancers	Fetal Muscle Leg	muscle
4	chr2:20618200-20626000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:20618400-20626000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:20618800-20623400	Enhancers	Fetal Muscle Trunk	muscle
7	chr2:20619200-20624400	Weak transcription	Small Intestine	intestine
8	chr2:20619800-20624600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:20620000-20624400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:20620200-20625400	Enhancers	HSMM	muscle
11	chr2:20621000-20623200	Enhancers	Left Ventricle	heart
12	chr2:20621000-20623200	Enhancers	HSMMtube	muscle
13	chr2:20621000-20623400	Enhancers	Lung	lung
14	chr2:20621000-20626000	Enhancers	NHDF-Ad	bronchial
15	chr2:20621200-20623200	Enhancers	Ovary	ovary
16	chr2:20621200-20623200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:20621200-20623600	Enhancers	Liver	Liver
18	chr2:20621200-20623800	Enhancers	Right Atrium	heart
19	chr2:20621200-20625400	Enhancers	Fetal Lung	lung
20	chr2:20621200-20625600	Enhancers	Fetal Stomach	stomach
21	chr2:20621200-20625800	Enhancers	Placenta	Placenta
22	chr2:20621200-20625800	Enhancers	HMEC	breast
23	chr2:20621200-20626000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:20621200-20626000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:20621200-20626200	Enhancers	Spleen	Spleen
26	chr2:20621400-20623600	Enhancers	Brain Hippocampus Middle	brain
27	chr2:20621600-20623600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:20621600-20625600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:20621800-20624000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:20621800-20624200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:20621800-20626000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:20621800-20629000	Weak transcription	Gastric	stomach
33	chr2:20622000-20623200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:20622000-20625600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:20622000-20626200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:20622200-20623200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:20622200-20624200	Enhancers	Adipose Nuclei	Adipose
38	chr2:20622200-20625600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:20622600-20623800	Weak transcription	Colonic Mucosa	Colon
40	chr2:20622600-20624000	Weak transcription	Brain Angular Gyrus	brain
41	chr2:20622600-20624000	Weak transcription	NHEK	skin
42	chr2:20622600-20624000	Weak transcription	Osteobl	bone
43	chr2:20622800-20623400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:20622800-20624200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:20622800-20624200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr2:20622800-20624200	Bivalent Enhancer	HepG2	liver
47	chr2:20622800-20624400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:20622800-20625600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr2:20622800-20625600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:20622800-20626200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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