Variant report

Variant	rs73275846
Chromosome Location	chr20:52550181-52550182
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:52583555..52586146-chr20:52548216..52550675,2	MCF-7	breast:
2	chr20:52549972..52550839-chr9:125665371..125666042,2	MCF-7	breast:
3	chr20:52194896..52195863-chr20:52550123..52551759,4	MCF-7	breast:
4	chr20:52367670..52370398-chr20:52548161..52552939,6	K562	blood:
5	chr20:52548636..52551590-chr20:52814166..52816550,2	MCF-7	breast:
6	chr2:47591536..47594124-chr20:52549587..52551175,2	MCF-7	breast:
7	chr20:52548692..52552101-chr20:55839394..55841994,3	MCF-7	breast:
8	chr20:52368056..52371228-chr20:52549159..52552395,4	K562	blood:
9	chr20:52203936..52206746-chr20:52550032..52552286,2	K562	blood:
10	chr20:52544141..52550658-chr20:55820732..55827450,8	MCF-7	breast:
11	chr20:52547224..52551169-chr20:55839983..55844591,5	MCF-7	breast:
12	chr20:52532392..52535656-chr20:52545674..52551256,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101144	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000167767	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73275830	1.00[AFR][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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52534200-52550200	Weak transcription	Fetal Thymus	thymus
2	chr20:52538400-52553400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:52543200-52550400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr20:52543200-52550600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr20:52543400-52550600	Weak transcription	Fetal Kidney	kidney
6	chr20:52543600-52550400	Weak transcription	Placenta	Placenta
7	chr20:52543600-52551000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr20:52543600-52556000	Weak transcription	Aorta	Aorta
9	chr20:52543800-52550200	Weak transcription	Fetal Muscle Leg	muscle
10	chr20:52543800-52550400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:52543800-52551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr20:52543800-52555000	Weak transcription	Stomach Mucosa	stomach
13	chr20:52544800-52552000	Weak transcription	Lung	lung
14	chr20:52547400-52550200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr20:52547600-52550200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:52547600-52550200	Weak transcription	HSMMtube	muscle
17	chr20:52547600-52550200	Weak transcription	NHDF-Ad	bronchial
18	chr20:52547600-52550600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr20:52547600-52550800	Weak transcription	NHLF	lung
20	chr20:52547600-52551200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr20:52547800-52550200	Weak transcription	HSMM	muscle
22	chr20:52547800-52550200	Weak transcription	Osteobl	bone
23	chr20:52547800-52550400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr20:52547800-52550800	Weak transcription	HMEC	breast
25	chr20:52547800-52550800	Weak transcription	NH-A	brain
26	chr20:52547800-52551000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr20:52548000-52550200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:52548000-52550200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr20:52548000-52550600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr20:52548000-52551000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr20:52548400-52550800	Weak transcription	A549	lung
32	chr20:52548400-52551000	Weak transcription	NHEK	skin
33	chr20:52549000-52558800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr20:52549400-52550600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr20:52549400-52553800	Enhancers	Primary hematopoietic stem cells	blood
36	chr20:52549600-52550200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:52549800-52550200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr20:52549800-52550200	Active TSS	GM12878-XiMat	blood
39	chr20:52549800-52551000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr20:52549800-52552600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr20:52550000-52550200	Enhancers	Adipose Nuclei	Adipose
42	chr20:52550000-52550200	Enhancers	K562	blood
43	chr20:52550000-52550200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr20:52550000-52550600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr20:52550000-52550600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr20:52550000-52550800	Enhancers	Primary B cells from cord blood	blood
47	chr20:52550000-52551000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr20:52550000-52551000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr20:52550000-52551200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr20:52550000-52551400	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links