Variant report

Variant	rs539264289
Chromosome Location	chr2:20423148-20423149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20299695..20307724-chr2:20421846..20426859,15	MCF-7	breast:
2	chr2:20422608..20425941-chr2:20442995..20447318,5	MCF-7	breast:
3	chr2:20249637..20253449-chr2:20421472..20424385,3	MCF-7	breast:
4	chr2:20422151..20423763-chr2:20440457..20442911,2	MCF-7	breast:
5	chr2:20306020..20309024-chr2:20421635..20424090,4	MCF-7	breast:
6	chr2:20249888..20254017-chr2:20419396..20423263,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068697	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000238735	Chromatin interaction
ENSG00000235411	Chromatin interaction
ENSG00000234378	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv1846803	chr2:20409322-20427189	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	esv3429530	chr2:20423096-20425644	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20391800-20423200	Weak transcription	Right Atrium	heart
2	chr2:20415800-20423200	Weak transcription	Small Intestine	intestine
3	chr2:20416000-20423800	Transcr. at gene 5' and 3'	NHEK	skin
4	chr2:20416200-20423200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:20420400-20423200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:20421400-20423200	Weak transcription	HSMMtube	muscle
7	chr2:20421600-20423200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr2:20421600-20423200	Enhancers	HSMM	muscle
9	chr2:20421600-20423800	Flanking Active TSS	GM12878-XiMat	blood
10	chr2:20421800-20424400	Enhancers	Fetal Brain Male	brain
11	chr2:20422000-20423200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:20422000-20425200	Active TSS	Esophagus	oesophagus
13	chr2:20422200-20423400	Bivalent Enhancer	Fetal Thymus	thymus
14	chr2:20422200-20425200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:20422400-20423200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:20422400-20423200	Flanking Bivalent TSS/Enh	Placenta	Placenta
17	chr2:20422400-20423200	Flanking Active TSS	Stomach Mucosa	stomach
18	chr2:20422400-20423800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:20422600-20423200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:20422600-20423200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr2:20422600-20423200	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr2:20422600-20423200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr2:20422600-20423200	Flanking Active TSS	NH-A	brain
24	chr2:20422600-20423400	Bivalent Enhancer	Spleen	Spleen
25	chr2:20422600-20424000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:20422600-20424200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:20422600-20425600	Active TSS	Fetal Brain Female	brain
28	chr2:20422600-20425800	Active TSS	Rectal Smooth Muscle	rectum
29	chr2:20422800-20423200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr2:20422800-20423200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr2:20422800-20423200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:20422800-20423200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr2:20422800-20423200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr2:20422800-20423200	Flanking Active TSS	HepG2	liver
35	chr2:20422800-20423200	Flanking Active TSS	Osteobl	bone
36	chr2:20422800-20423400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr2:20422800-20423400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
38	chr2:20422800-20423400	Enhancers	Lung	lung
39	chr2:20422800-20423400	Flanking Active TSS	Pancreas	Pancrea
40	chr2:20422800-20423800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:20422800-20423800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr2:20422800-20423800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr2:20422800-20424600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr2:20422800-20424800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:20422800-20425400	Active TSS	Brain Angular Gyrus	brain
46	chr2:20422800-20425400	Active TSS	A549	lung
47	chr2:20422800-20425400	Active TSS	HMEC	breast
48	chr2:20422800-20425600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:20422800-20425600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:20422800-20425600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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