Variant report

Variant	rs542345382
Chromosome Location	chr20:23030270-23030271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23028682..23030342-chr20:23324777..23326574,2	MCF-7	breast:
2	chr20:23029557..23031432-chr20:23330980..23333181,2	MCF-7	breast:
3	chr20:23029838..23032400-chr20:23167323..23168960,2	MCF-7	breast:
4	chr20:23017212..23020123-chr20:23028174..23031939,4	MCF-7	breast:
5	chr20:23029084..23031719-chr20:23329992..23332006,2	K562	blood:

Variant related genes	Relation type
ENSG00000132661	Chromatin interaction
ENSG00000230387	Chromatin interaction
ENSG00000234832	Chromatin interaction
ENSG00000234646	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv482065	chr20:23026271-23030301	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23024600-23031400	Weak transcription	K562	blood
2	chr20:23026000-23032400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr20:23026600-23030400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr20:23026800-23032000	Active TSS	Left Ventricle	heart
5	chr20:23027400-23031800	Active TSS	Right Atrium	heart
6	chr20:23027400-23032400	Active TSS	Placenta Amnion	Placenta Amnion
7	chr20:23027600-23031800	Active TSS	HSMM	muscle
8	chr20:23027800-23031200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr20:23028000-23031200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr20:23028000-23031600	Active TSS	HSMMtube	muscle
11	chr20:23028000-23032200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
12	chr20:23028000-23032800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr20:23028200-23030600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
14	chr20:23028200-23030800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
15	chr20:23028200-23031000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
16	chr20:23028200-23031200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr20:23028200-23031200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr20:23028200-23031200	Flanking Active TSS	HUVEC	blood vessel
19	chr20:23028200-23032000	Flanking Active TSS	HMEC	breast
20	chr20:23028200-23032400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr20:23028200-23032600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr20:23028400-23030400	Flanking Active TSS	Pancreas	Pancrea
23	chr20:23028400-23031200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr20:23028400-23031400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:23028400-23031600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr20:23028400-23032000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr20:23028400-23032200	Active TSS	Aorta	Aorta
28	chr20:23028600-23030400	Flanking Active TSS	Right Ventricle	heart
29	chr20:23028600-23030800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr20:23028600-23032000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr20:23028600-23032200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr20:23028600-23032200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr20:23028600-23032200	Bivalent/Poised TSS	Thymus	Thymus
34	chr20:23028800-23030600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr20:23028800-23032200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr20:23028800-23032200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
37	chr20:23028800-23032400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr20:23029000-23030600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr20:23029000-23030600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr20:23029000-23032200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr20:23029200-23030400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr20:23029200-23030600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr20:23029200-23030800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr20:23029200-23031000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr20:23029200-23031000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
46	chr20:23029200-23031200	Bivalent Enhancer	Fetal Brain Male	brain
47	chr20:23029200-23031200	Flanking Active TSS	Spleen	Spleen
48	chr20:23029200-23031600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr20:23029200-23031600	Active TSS	NHDF-Ad	bronchial
50	chr20:23029200-23031800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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