Variant report

Variant	rs73275820
Chromosome Location	chr20:52525546-52525547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52524119..52525740-chr21:41685989..41687985,2	MCF-7	breast:
2	chr20:52518754..52529234-chr20:55834628..55846143,16	MCF-7	breast:
3	chr20:45986219..45988901-chr20:52523048..52525980,3	MCF-7	breast:
4	chr19:16682135..16685034-chr20:52523869..52526026,2	MCF-7	breast:
5	chr20:52523557..52527351-chr20:55838528..55843177,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127526	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16998499	1.00[EUR][1000 genomes]
rs16998502	1.00[EUR][1000 genomes]
rs16998533	1.00[EUR][1000 genomes]
rs57886257	1.00[EUR][1000 genomes]
rs58979406	1.00[EUR][1000 genomes]
rs59046998	1.00[EUR][1000 genomes]
rs7262342	1.00[EUR][1000 genomes]
rs73275816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73914417	1.00[EUR][1000 genomes]
rs73914419	1.00[EUR][1000 genomes]
rs73914429	1.00[EUR][1000 genomes]
rs73914430	1.00[EUR][1000 genomes]
rs73914434	1.00[EUR][1000 genomes]
rs8114189	1.00[EUR][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	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	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	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
4	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52516800-52531200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr20:52517000-52530800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr20:52518400-52528800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr20:52518600-52529800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:52518600-52532000	Weak transcription	Esophagus	oesophagus
6	chr20:52518800-52525600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr20:52518800-52526800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:52518800-52531000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr20:52518800-52532000	Weak transcription	Gastric	stomach
10	chr20:52519000-52530800	Weak transcription	Adipose Nuclei	Adipose
11	chr20:52519200-52529000	Weak transcription	Lung	lung
12	chr20:52519200-52530800	Weak transcription	Right Atrium	heart
13	chr20:52520800-52530400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr20:52521200-52526400	Enhancers	Primary B cells from peripheral blood	blood
15	chr20:52521400-52526200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:52521600-52526200	Enhancers	NHDF-Ad	bronchial
17	chr20:52522200-52526200	Enhancers	Hela-S3	cervix
18	chr20:52522400-52526000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:52522400-52526000	Enhancers	Fetal Thymus	thymus
20	chr20:52522400-52527200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr20:52522600-52525600	Enhancers	Primary hematopoietic stem cells	blood
22	chr20:52522600-52526200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr20:52523400-52526400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr20:52523800-52527000	Enhancers	Primary B cells from cord blood	blood
25	chr20:52523800-52528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:52523800-52531200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr20:52523800-52531800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr20:52524000-52525600	Weak transcription	Dnd41	blood
29	chr20:52524000-52525800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr20:52524000-52526200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr20:52524000-52529800	Weak transcription	HSMM	muscle
32	chr20:52524000-52529800	Weak transcription	HSMMtube	muscle
33	chr20:52524400-52525600	Enhancers	HepG2	liver
34	chr20:52524400-52529200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr20:52524800-52525600	Enhancers	Stomach Mucosa	stomach
36	chr20:52524800-52530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr20:52525000-52525600	Enhancers	GM12878-XiMat	blood
38	chr20:52525000-52525600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr20:52525000-52528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr20:52525000-52529800	Weak transcription	HMEC	breast
41	chr20:52525000-52529800	Weak transcription	NHEK	skin
42	chr20:52525000-52530000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr20:52525200-52525600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr20:52525200-52525600	Weak transcription	A549	lung
45	chr20:52525200-52525600	Weak transcription	NHLF	lung
46	chr20:52525200-52525800	Enhancers	Thymus	Thymus
47	chr20:52525200-52528000	Weak transcription	K562	blood
48	chr20:52525400-52525800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr20:52525400-52526000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr20:52525400-52526000	Enhancers	Fetal Kidney	kidney

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