Variant report

Variant	rs73275816
Chromosome Location	chr20:52520504-52520505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52518558..52521043-chr3:63848292..63850055,2	MCF-7	breast:
2	chr20:52518754..52529234-chr20:55834628..55846143,16	MCF-7	breast:
3	chr17:56706952..56710647-chr20:52520443..52523443,3	MCF-7	breast:
4	chr20:52520159..52522612-chr7:157127251..157130099,2	MCF-7	breast:
5	chr20:46265090..46267588-chr20:52518487..52521183,2	MCF-7	breast:
6	chr20:52518809..52521145-chr3:64007376..64009538,2	MCF-7	breast:
7	chr20:52518559..52520827-chr9:97624816..97626567,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105993	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000163634	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]
rs73275820	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52507800-52522800	Weak transcription	Placenta	Placenta
2	chr20:52514400-52521000	Enhancers	HMEC	breast
3	chr20:52514600-52520600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:52514600-52520600	Enhancers	NHDF-Ad	bronchial
5	chr20:52514800-52520600	Enhancers	NHLF	lung
6	chr20:52514800-52521000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:52515000-52520800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr20:52515600-52521000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:52516800-52531200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr20:52517000-52530800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr20:52517200-52525200	Weak transcription	Thymus	Thymus
12	chr20:52517800-52520600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr20:52517800-52520600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:52517800-52520800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:52518000-52523400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr20:52518000-52523400	Weak transcription	HSMMtube	muscle
17	chr20:52518400-52520600	Enhancers	NHEK	skin
18	chr20:52518400-52522200	Weak transcription	Hela-S3	cervix
19	chr20:52518400-52528800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr20:52518600-52521800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr20:52518600-52522400	Weak transcription	K562	blood
22	chr20:52518600-52522800	Weak transcription	Stomach Mucosa	stomach
23	chr20:52518600-52523400	Weak transcription	HSMM	muscle
24	chr20:52518600-52523600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr20:52518600-52529800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr20:52518600-52532000	Weak transcription	Esophagus	oesophagus
27	chr20:52518800-52522400	Weak transcription	Fetal Thymus	thymus
28	chr20:52518800-52523600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr20:52518800-52523600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr20:52518800-52523600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr20:52518800-52525600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr20:52518800-52526800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr20:52518800-52531000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr20:52518800-52532000	Weak transcription	Gastric	stomach
35	chr20:52519000-52522600	Weak transcription	Fetal Stomach	stomach
36	chr20:52519000-52523400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr20:52519000-52525400	Weak transcription	Fetal Kidney	kidney
38	chr20:52519000-52530800	Weak transcription	Adipose Nuclei	Adipose
39	chr20:52519200-52521400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr20:52519200-52522800	Weak transcription	NH-A	brain
41	chr20:52519200-52529000	Weak transcription	Lung	lung
42	chr20:52519200-52530800	Weak transcription	Right Atrium	heart
43	chr20:52519400-52520600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr20:52519400-52520600	Enhancers	Osteobl	bone
45	chr20:52519400-52522600	Weak transcription	Fetal Muscle Leg	muscle
46	chr20:52519400-52523400	Weak transcription	HUVEC	blood vessel
47	chr20:52519400-52523800	Weak transcription	Fetal Heart	heart
48	chr20:52519600-52520800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr20:52519800-52521600	Enhancers	GM12878-XiMat	blood
50	chr20:52519800-52522600	Enhancers	Primary B cells from cord blood	blood

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