Variant report

Variant	rs342099
Chromosome Location	chr2:20639033-20639034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20637684..20640674-chr2:20641308..20644150,4	MCF-7	breast:
2	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
3	chr2:20629036..20632108-chr2:20636280..20640164,4	MCF-7	breast:
4	chr2:20638795..20639331-chr3:64009053..64009716,2	MCF-7	breast:
5	chr2:20632166..20634263-chr2:20638884..20640461,2	MCF-7	breast:
6	chr2:20636110..20639371-chr2:20834157..20837264,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163636	Chromatin interaction
ENSG00000118960	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11889962	0.82[EUR][1000 genomes]
rs11896000	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20625000-20646000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20625400-20639200	Weak transcription	Esophagus	oesophagus
3	chr2:20629200-20643400	Weak transcription	Right Atrium	heart
4	chr2:20630600-20644800	Weak transcription	Lung	lung
5	chr2:20631000-20639200	Weak transcription	Gastric	stomach
6	chr2:20632600-20644800	Weak transcription	Aorta	Aorta
7	chr2:20633200-20641600	Weak transcription	Placenta	Placenta
8	chr2:20637200-20639600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:20637200-20639600	Enhancers	Pancreas	Pancrea
10	chr2:20637200-20640600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:20637400-20641800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:20637800-20639400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:20637800-20639400	Enhancers	NHDF-Ad	bronchial
14	chr2:20637800-20639600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:20637800-20639600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:20637800-20639600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:20638000-20639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:20638000-20639400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:20638000-20639400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:20638000-20639400	Enhancers	HSMMtube	muscle
21	chr2:20638000-20639400	Enhancers	NHEK	skin
22	chr2:20638000-20639600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:20638000-20639600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:20638000-20639600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:20638000-20639600	Flanking Active TSS	A549	lung
26	chr2:20638000-20639600	Enhancers	HMEC	breast
27	chr2:20638000-20639600	Enhancers	HSMM	muscle
28	chr2:20638000-20639600	Enhancers	NHLF	lung
29	chr2:20638200-20639200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:20638200-20639200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:20638200-20639200	Flanking Active TSS	NH-A	brain
32	chr2:20638200-20639600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:20638200-20639600	Flanking Active TSS	Hela-S3	cervix
34	chr2:20638200-20639800	Enhancers	Adipose Nuclei	Adipose
35	chr2:20638200-20640800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:20638400-20639200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:20638400-20639200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:20638400-20639400	Enhancers	Liver	Liver
39	chr2:20638400-20644400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:20638400-20644600	Weak transcription	Brain Angular Gyrus	brain
41	chr2:20638400-20644600	Weak transcription	Psoas Muscle	Psoas
42	chr2:20638600-20639600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr2:20638600-20639600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr2:20638600-20641600	Weak transcription	K562	blood
45	chr2:20638600-20643200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:20638800-20639200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:20638800-20639400	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:20638800-20639400	Flanking Active TSS	HepG2	liver
49	chr2:20639000-20639200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:20639000-20639200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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