Variant report

Variant	rs73275827
Chromosome Location	chr20:52530393-52530394
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52483057..52485404-chr20:52528984..52531501,2	K562	blood:
2	chr1:115320833..115323304-chr20:52529424..52532106,2	MCF-7	breast:
3	chr20:52530267..52534413-chr20:55825060..55827185,3	MCF-7	breast:
4	chr17:56707273..56710524-chr20:52529991..52534140,5	MCF-7	breast:
5	chr20:52485654..52487265-chr20:52530091..52533503,52	MCF-7	breast:
6	chr20:39673017..39675795-chr20:52529658..52531350,2	MCF-7	breast:
7	chr20:52529863..52532284-chr7:111681323..111683323,2	MCF-7	breast:
8	chr20:49346829..49348707-chr20:52528784..52530784,2	MCF-7	breast:
9	chr20:52196785..52198931-chr20:52529560..52532531,2	K562	blood:
10	chr20:52530031..52532496-chr20:52533995..52537242,3	K562	blood:
11	chr20:52367336..52371354-chr20:52530304..52536216,9	K562	blood:
12	chr20:52527549..52536399-chr20:55835927..55843462,13	MCF-7	breast:
13	chr20:52526939..52530902-chr3:43731432..43734302,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124171	Chromatin interaction
ENSG00000011198	Chromatin interaction
ENSG00000160746	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000052723	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs59358893	0.86[AFR][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	chr20:52516800-52531200	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	chr20:52518600-52532000	Weak transcription	Esophagus	oesophagus
4	chr20:52518800-52531000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr20:52518800-52532000	Weak transcription	Gastric	stomach
6	chr20:52519000-52530800	Weak transcription	Adipose Nuclei	Adipose
7	chr20:52519200-52530800	Weak transcription	Right Atrium	heart
8	chr20:52520800-52530400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:52523800-52531200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr20:52523800-52531800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr20:52525600-52530600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr20:52525600-52530800	Weak transcription	Stomach Mucosa	stomach
13	chr20:52525800-52530400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr20:52525800-52530800	Weak transcription	Thymus	Thymus
15	chr20:52526000-52530600	Weak transcription	Fetal Kidney	kidney
16	chr20:52526200-52530600	Weak transcription	Fetal Intestine Large	intestine
17	chr20:52526200-52530600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr20:52526200-52530800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr20:52526200-52530800	Weak transcription	GM12878-XiMat	blood
20	chr20:52526200-52531000	Weak transcription	Hela-S3	cervix
21	chr20:52526400-52530400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr20:52527000-52530400	Weak transcription	Primary B cells from cord blood	blood
23	chr20:52527000-52530800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr20:52527600-52532000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:52528400-52531600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:52529000-52530400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr20:52529000-52530800	Weak transcription	A549	lung
28	chr20:52529000-52531200	Weak transcription	Primary T cells from cord blood	blood
29	chr20:52529200-52530400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr20:52529200-52530800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr20:52529200-52531200	Enhancers	K562	blood
32	chr20:52529400-52530800	Weak transcription	HepG2	liver
33	chr20:52529400-52533200	Weak transcription	Lung	lung
34	chr20:52529600-52530600	Weak transcription	Fetal Heart	heart
35	chr20:52529600-52531200	Enhancers	NHDF-Ad	bronchial
36	chr20:52529600-52531400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr20:52529800-52530800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr20:52529800-52531200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr20:52529800-52531200	Enhancers	HSMMtube	muscle
40	chr20:52529800-52531200	Enhancers	NHEK	skin
41	chr20:52529800-52531400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr20:52529800-52531400	Enhancers	HSMM	muscle
43	chr20:52529800-52531600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr20:52529800-52532000	Enhancers	HMEC	breast
45	chr20:52530000-52530800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr20:52530000-52531000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr20:52530000-52531200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr20:52530000-52531200	Enhancers	Osteobl	bone
49	chr20:52530000-52531400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr20:52530000-52531600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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