Variant report

Variant	rs56840583
Chromosome Location	chr20:23136702-23136703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23126510..23128987-chr20:23134466..23137305,2	MCF-7	breast:
2	chr20:23135433..23136976-chr20:23166923..23169516,2	K562	blood:
3	chr20:23135912..23138297-chr20:23172308..23174497,2	K562	blood:
4	chr20:23133379..23136064-chr20:23136582..23138082,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230387	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16984879	1.00[AMR][1000 genomes]
rs16984883	1.00[AMR][1000 genomes]
rs16984886	1.00[AMR][1000 genomes]
rs16984891	1.00[AMR][1000 genomes]
rs16984898	1.00[AMR][1000 genomes]
rs16984902	1.00[AMR][1000 genomes]
rs16984958	1.00[AMR][1000 genomes]
rs57380874	1.00[AMR][1000 genomes]
rs61060770	1.00[AMR][1000 genomes]
rs73297706	1.00[AMR][1000 genomes]
rs73305567	1.00[AMR][1000 genomes]
rs73309887	1.00[AMR][1000 genomes]
rs73309899	1.00[AMR][1000 genomes]
rs73311903	1.00[AMR][1000 genomes]
rs73311905	1.00[AMR][1000 genomes]
rs73311914	1.00[AMR][1000 genomes]
rs73311922	1.00[AMR][1000 genomes]

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	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
2	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
3	nsv1066935	chr20:23123507-23146449	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23120200-23137600	Enhancers	HUVEC	blood vessel
2	chr20:23121000-23144200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:23121600-23138200	Enhancers	Adipose Nuclei	Adipose
4	chr20:23121800-23137600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr20:23121800-23143000	Enhancers	NHDF-Ad	bronchial
6	chr20:23122600-23138000	Enhancers	NHLF	lung
7	chr20:23125000-23137600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr20:23127200-23142200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr20:23127600-23137600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr20:23127600-23137600	Enhancers	Left Ventricle	heart
11	chr20:23127800-23137000	Enhancers	Dnd41	blood
12	chr20:23128800-23137600	Enhancers	Psoas Muscle	Psoas
13	chr20:23129000-23140800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:23130200-23140400	Weak transcription	Brain Hippocampus Middle	brain
15	chr20:23131400-23138000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr20:23132200-23140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:23132600-23139800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr20:23132600-23140800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr20:23132800-23136800	Weak transcription	Aorta	Aorta
20	chr20:23132800-23140400	Weak transcription	Brain Substantia Nigra	brain
21	chr20:23133000-23137000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr20:23133000-23137600	Enhancers	Esophagus	oesophagus
23	chr20:23133200-23139400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr20:23133400-23137400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr20:23133400-23139400	Weak transcription	Primary T cells from cord blood	blood
26	chr20:23133800-23144000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr20:23134400-23137200	Enhancers	Placenta	Placenta
28	chr20:23134400-23141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr20:23134600-23136800	Weak transcription	Lung	lung
30	chr20:23134600-23138000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr20:23134600-23143400	Enhancers	NHEK	skin
32	chr20:23134800-23137200	Enhancers	Primary hematopoietic stem cells	blood
33	chr20:23134800-23137600	Enhancers	HMEC	breast
34	chr20:23134800-23138600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr20:23134800-23139200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:23135000-23137400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr20:23135200-23136800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr20:23135400-23139800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr20:23135600-23143200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr20:23135800-23137200	Enhancers	Fetal Muscle Leg	muscle
41	chr20:23135800-23137200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr20:23135800-23137400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr20:23135800-23137600	Enhancers	Ovary	ovary
44	chr20:23135800-23138000	Enhancers	HSMM	muscle
45	chr20:23135800-23140000	Weak transcription	Small Intestine	intestine
46	chr20:23136000-23136800	Weak transcription	Stomach Mucosa	stomach
47	chr20:23136000-23136800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr20:23136000-23139800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:23136000-23140400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr20:23136000-23140400	Weak transcription	Fetal Heart	heart

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