Variant report

Variant	esv1813816
Chromosome Location	chr20:52331815-52335833
allele	n/a
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52334345..52336317-chr20:52367627..52369291,2	K562	blood:
2	chr17:59484512..59487133-chr20:52334715..52337484,3	MCF-7	breast:
3	chr17:56708102..56709685-chr20:52334422..52336895,2	MCF-7	breast:
4	chr20:52335362..52337184-chr3:181673086..181675565,2	MCF-7	breast:
5	chr17:56734892..56737825-chr20:52328650..52331819,3	MCF-7	breast:
6	chr20:48551975..48554489-chr20:52333136..52336076,2	MCF-7	breast:
7	chr20:52332188..52334360-chr20:52334910..52337778,2	K562	blood:
8	chr20:52332749..52333464-chr3:98352060..98352684,2	MCF-7	breast:
9	chr20:46344123..46345787-chr20:52333550..52336487,2	MCF-7	breast:
10	chr20:52330608..52332474-chr9:130210566..130212276,2	MCF-7	breast:
11	chr17:57913883..57915449-chr20:52334275..52336255,2	MCF-7	breast:
12	chr20:52332188..52334360-chr20:52334910..52337778,2	K562	blood:
13	chr20:52292608..52296429-chr20:52329359..52332532,3	K562	blood:
14	chr11:65190043..65192539-chr20:52329283..52331971,3	MCF-7	breast:
15	chr20:52331960..52332702-chr4:53214789..53215309,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245532	chromatin interactions
ENSG00000124226	chromatin interactions
ENSG00000201302	chromatin interactions
ENSG00000197958	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000202077	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186645699	chr20:52331826-52331827	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs117084780	chr20:52331836-52331837	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs138617811	chr20:52331870-52331871	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560136047	chr20:52331888-52331889	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs191952851	chr20:52331922-52331923	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs528473002	chr20:52331936-52331937	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs551787041	chr20:52331955-52331956	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs539763332	chr20:52331961-52331962	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs531007256	chr20:52331990-52331991	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34368454	chr20:52332097-52332098	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569473260	chr20:52332108-52332109	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573182037	chr20:52332120-52332121	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376484478	chr20:52332125-52332126	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs529096417	chr20:52332127-52332128	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs541047581	chr20:52332177-52332178	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548865901	chr20:52332180-52332181	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs112170958	chr20:52332243-52332244	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs554265064	chr20:52332244-52332245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534625844	chr20:52332246-52332247	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557691194	chr20:52332255-52332256	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183577825	chr20:52332258-52332259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543108613	chr20:52332261-52332262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs71337340	chr20:52332292-52332293	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs557128511	chr20:52332297-52332298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs373768663	chr20:52332302-52332303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs35951129	chr20:52332320-52332321	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs574264135	chr20:52332327-52332328	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs6068634	chr20:52332348-52332349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7262825	chr20:52332372-52332373	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553693107	chr20:52332393-52332394	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546005699	chr20:52332419-52332420	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545379607	chr20:52332421-52332422	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565253047	chr20:52332427-52332428	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs111944583	chr20:52332450-52332451	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201606208	chr20:52332477-52332478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199839328	chr20:52332483-52332484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544282745	chr20:52332496-52332497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74179229	chr20:52332501-52332502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71323969	chr20:52332516-52332517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71337341	chr20:52332523-52332524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561072292	chr20:52332533-52332534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188969967	chr20:52332537-52332538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191077868	chr20:52332565-52332566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565543737	chr20:52332568-52332569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9753706	chr20:52332574-52332575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551404552	chr20:52332593-52332594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71323970	chr20:52332595-52332596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117185077	chr20:52332633-52332634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142208841	chr20:52332654-52332655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73625482	chr20:52332656-52332657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52325200-52334600	Weak transcription	Fetal Muscle Leg	muscle
2	chr20:52326200-52333000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr20:52329200-52333000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr20:52329600-52332600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr20:52330400-52341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:52330800-52337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr20:52331000-52332400	Enhancers	Primary B cells from peripheral blood	blood
8	chr20:52331200-52333400	Enhancers	Primary B cells from cord blood	blood
9	chr20:52331200-52340600	Weak transcription	Placenta	Placenta
10	chr20:52331200-52352600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:52331800-52332200	Flanking Active TSS	GM12878-XiMat	blood
12	chr20:52331800-52332200	Enhancers	HepG2	liver
13	chr20:52331800-52332800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr20:52331800-52336200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr20:52332200-52332400	Enhancers	GM12878-XiMat	blood
16	chr20:52332200-52340400	Weak transcription	HepG2	liver
17	chr20:52332400-52335400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr20:52332400-52335600	Weak transcription	GM12878-XiMat	blood
19	chr20:52332600-52334200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr20:52332800-52333200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr20:52333000-52333600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr20:52333000-52333600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr20:52333200-52334800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr20:52333400-52334800	Weak transcription	Primary B cells from cord blood	blood
25	chr20:52333600-52337400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr20:52334200-52334600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr20:52334200-52335000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:52334200-52335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:52334600-52334800	Enhancers	Osteobl	bone
30	chr20:52334600-52335000	Enhancers	Fetal Muscle Leg	muscle
31	chr20:52334600-52335400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr20:52334600-52335600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr20:52334800-52335400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr20:52334800-52336400	Enhancers	Primary B cells from cord blood	blood
35	chr20:52334800-52337400	Weak transcription	Osteobl	bone
36	chr20:52335400-52336000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr20:52335400-52336400	Enhancers	Primary B cells from peripheral blood	blood
38	chr20:52335600-52337400	Enhancers	GM12878-XiMat	blood

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