Variant report

Variant	rs73275830
Chromosome Location	chr20:52536825-52536826
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59939495..59943497-chr20:52534772..52539364,5	MCF-7	breast:
2	chr11:74531301..74533509-chr20:52536139..52539036,2	MCF-7	breast:
3	chr20:52536125..52537710-chr20:55852371..55854723,2	MCF-7	breast:
4	chr20:52197106..52199125-chr20:52536671..52538223,2	K562	blood:
5	chr20:52531219..52535631-chr20:52536597..52539689,4	K562	blood:
6	chr20:52536750..52538315-chr9:132392246..132395205,2	MCF-7	breast:
7	chr12:6513838..6516731-chr20:52535504..52537945,2	MCF-7	breast:
8	chr20:52530031..52532496-chr20:52533995..52537242,3	K562	blood:
9	chr20:52536604..52539725-chr20:55845811..55848519,3	MCF-7	breast:
10	chr20:52535496..52537138-chr20:52680677..52682336,2	MCF-7	breast:
11	chr20:52195206..52196009-chr20:52535839..52537004,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136492	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59358893	1.00[AMR][1000 genomes]
rs73275846	1.00[AFR][1000 genomes]
rs73914427	1.00[AMR][1000 genomes]
rs73914429	1.00[AMR][1000 genomes]
rs73914430	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
3	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52532400-52537400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:52532400-52538400	Weak transcription	Esophagus	oesophagus
3	chr20:52532400-52542600	Weak transcription	Gastric	stomach
4	chr20:52532600-52538400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr20:52533000-52540400	Weak transcription	Spleen	Spleen
6	chr20:52533400-52537400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:52533400-52542600	Weak transcription	Small Intestine	intestine
8	chr20:52533600-52537800	Weak transcription	Primary B cells from cord blood	blood
9	chr20:52533800-52537400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:52533800-52537600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr20:52533800-52539800	Weak transcription	Stomach Mucosa	stomach
12	chr20:52533800-52542600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr20:52533800-52543200	Weak transcription	Left Ventricle	heart
14	chr20:52534200-52537400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr20:52534200-52539400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr20:52534200-52540400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr20:52534200-52542600	Weak transcription	Fetal Intestine Large	intestine
18	chr20:52534200-52550200	Weak transcription	Fetal Thymus	thymus
19	chr20:52534400-52537600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr20:52534400-52538000	Weak transcription	Fetal Brain Male	brain
21	chr20:52534400-52538400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr20:52534400-52539400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr20:52534400-52539400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr20:52534400-52542600	Weak transcription	Right Atrium	heart
25	chr20:52534400-52542800	Weak transcription	Right Ventricle	heart
26	chr20:52534600-52538000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr20:52534600-52538200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr20:52534600-52538800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr20:52534600-52539000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr20:52534600-52539600	Weak transcription	A549	lung
31	chr20:52534600-52542600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr20:52534600-52542800	Weak transcription	Fetal Lung	lung
33	chr20:52534800-52537400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr20:52534800-52537400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr20:52534800-52537400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr20:52534800-52537600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:52534800-52538000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr20:52534800-52538200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr20:52534800-52538200	Weak transcription	Adipose Nuclei	Adipose
40	chr20:52534800-52539400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr20:52534800-52539400	Weak transcription	HSMM	muscle
42	chr20:52534800-52539400	Weak transcription	HSMMtube	muscle
43	chr20:52534800-52539400	Weak transcription	NHEK	skin
44	chr20:52534800-52539600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr20:52534800-52539600	Weak transcription	Fetal Stomach	stomach
46	chr20:52534800-52539600	Weak transcription	NHLF	lung
47	chr20:52534800-52542400	Weak transcription	NH-A	brain
48	chr20:52534800-52542600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr20:52534800-52542800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr20:52534800-52542800	Weak transcription	Fetal Muscle Leg	muscle

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