Variant report

Variant	rs6713280
Chromosome Location	chr2:20622292-20622293
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	chr2:20620305..20623674-chr2:20644308..20648225,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6744648	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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:80 , 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	chr2:20619200-20623000	Enhancers	Pancreas	Pancrea
8	chr2:20619200-20624400	Weak transcription	Small Intestine	intestine
9	chr2:20619400-20622800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:20619800-20622400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:20619800-20624600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:20620000-20622600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:20620000-20623000	Weak transcription	Fetal Kidney	kidney
14	chr2:20620000-20624400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:20620200-20625400	Enhancers	HSMM	muscle
16	chr2:20620600-20623000	Enhancers	Right Ventricle	heart
17	chr2:20621000-20623000	Enhancers	Esophagus	oesophagus
18	chr2:20621000-20623200	Enhancers	Left Ventricle	heart
19	chr2:20621000-20623200	Enhancers	HSMMtube	muscle
20	chr2:20621000-20623400	Enhancers	Lung	lung
21	chr2:20621000-20626000	Enhancers	NHDF-Ad	bronchial
22	chr2:20621200-20622600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:20621200-20622600	Enhancers	Rectal Smooth Muscle	rectum
24	chr2:20621200-20622600	Enhancers	NHLF	lung
25	chr2:20621200-20623000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:20621200-20623000	Enhancers	Colon Smooth Muscle	Colon
27	chr2:20621200-20623000	Enhancers	Fetal Intestine Small	intestine
28	chr2:20621200-20623000	Enhancers	Stomach Mucosa	stomach
29	chr2:20621200-20623200	Enhancers	Ovary	ovary
30	chr2:20621200-20623200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr2:20621200-20623600	Enhancers	Liver	Liver
32	chr2:20621200-20623800	Enhancers	Right Atrium	heart
33	chr2:20621200-20625400	Enhancers	Fetal Lung	lung
34	chr2:20621200-20625600	Enhancers	Fetal Stomach	stomach
35	chr2:20621200-20625800	Enhancers	Placenta	Placenta
36	chr2:20621200-20625800	Enhancers	HMEC	breast
37	chr2:20621200-20626000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:20621200-20626000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:20621200-20626200	Enhancers	Spleen	Spleen
40	chr2:20621400-20622400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:20621400-20622600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:20621400-20622600	Enhancers	Colonic Mucosa	Colon
43	chr2:20621400-20622600	Enhancers	NHEK	skin
44	chr2:20621400-20622800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:20621400-20622800	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:20621400-20623000	Enhancers	Brain Substantia Nigra	brain
47	chr2:20621400-20623000	Enhancers	Psoas Muscle	Psoas
48	chr2:20621400-20623000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr2:20621400-20623600	Enhancers	Brain Hippocampus Middle	brain
50	chr2:20621600-20622400	Enhancers	NH-A	brain

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