Variant report

Variant	nsv586225
Chromosome Location	chr20:52474947-52475777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52368202..52371256-chr20:52472915..52475847,3	K562	blood:
2	chr20:52471901..52491673-chr20:55835708..55845674,34	MCF-7	breast:
3	chr17:57932184..57934585-chr20:52473101..52475297,2	MCF-7	breast:
4	chr20:52474954..52475497-chr5:73168089..73168589,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226308	chromatin interactions
ENSG00000101144	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6091763	chr20:52474947-52474948	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567482867	chr20:52474998-52474999	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs561097437	chr20:52475003-52475004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs191530063	chr20:52475035-52475036	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs553249621	chr20:52475038-52475039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573016415	chr20:52475053-52475054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540493919	chr20:52475063-52475064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs34215565	chr20:52475079-52475080	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538253227	chr20:52475100-52475101	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs6126990	chr20:52475190-52475191	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs551233275	chr20:52475210-52475211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571313964	chr20:52475222-52475223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558168680	chr20:52475244-52475245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574876320	chr20:52475268-52475269	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543929586	chr20:52475291-52475292	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560620120	chr20:52475303-52475304	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574991082	chr20:52475321-52475322	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540430927	chr20:52475347-52475348	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs74418169	chr20:52475373-52475374	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560842795	chr20:52475406-52475407	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532740039	chr20:52475441-52475442	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552895371	chr20:52475457-52475458	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1796603	chr20:52475466-52475467	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs576103239	chr20:52475474-52475475	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531717376	chr20:52475477-52475478	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs184152192	chr20:52475490-52475491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6126991	chr20:52475497-52475498	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs555461420	chr20:52475501-52475502	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs68042289	chr20:52475510-52475511	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs79931942	chr20:52475529-52475530	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs141285020	chr20:52475535-52475536	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs374952206	chr20:52475536-52475537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs77380816	chr20:52475545-52475546	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs529911906	chr20:52475547-52475548	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377440902	chr20:52475549-52475550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7352979	chr20:52475551-52475552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs372213171	chr20:52475568-52475569	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190012526	chr20:52475594-52475595	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs77723419	chr20:52475599-52475600	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs78638216	chr20:52475601-52475602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs374385582	chr20:52475625-52475626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs77249702	chr20:52475632-52475633	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs538578121	chr20:52475644-52475645	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs71819073	chr20:52475645-52475646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs76426948	chr20:52475652-52475653	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79506492	chr20:52475670-52475671	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs78541998	chr20:52475735-52475736	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs79877124	chr20:52475748-52475749	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs568532794	chr20:52475754-52475755	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs73146535	chr20:52475764-52475765	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52453600-52480200	Weak transcription	Small Intestine	intestine
2	chr20:52456600-52476200	Weak transcription	Gastric	stomach
3	chr20:52468800-52476200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:52468800-52481400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:52471600-52475000	Enhancers	Primary T cells from cord blood	blood
6	chr20:52472200-52476600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr20:52472400-52480800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:52473200-52480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr20:52473400-52476200	Weak transcription	Placenta	Placenta
10	chr20:52473400-52476200	Weak transcription	Spleen	Spleen
11	chr20:52473600-52475000	Enhancers	Fetal Lung	lung
12	chr20:52473600-52476400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr20:52474000-52475400	Enhancers	Fetal Intestine Large	intestine
14	chr20:52474000-52476600	Enhancers	Stomach Mucosa	stomach
15	chr20:52474200-52475000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:52474200-52475000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr20:52474200-52475000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr20:52474200-52475000	Enhancers	Fetal Heart	heart
19	chr20:52474200-52475000	Enhancers	Fetal Kidney	kidney
20	chr20:52474200-52475000	Flanking Active TSS	HepG2	liver
21	chr20:52474200-52475200	Enhancers	Fetal Intestine Small	intestine
22	chr20:52474200-52475400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr20:52474200-52476600	Enhancers	Duodenum Mucosa	Duodenum
24	chr20:52474400-52475000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:52474400-52475000	Enhancers	Colonic Mucosa	Colon
26	chr20:52474400-52475000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr20:52474400-52475000	Enhancers	Right Ventricle	heart
28	chr20:52474400-52475000	Weak transcription	Dnd41	blood
29	chr20:52474400-52476200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr20:52474600-52475000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr20:52474600-52475000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr20:52474600-52476200	Weak transcription	Aorta	Aorta
33	chr20:52474600-52480200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr20:52474600-52480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr20:52474600-52481600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr20:52474800-52476200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr20:52474800-52476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr20:52474800-52476200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr20:52474800-52476200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr20:52474800-52476200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr20:52474800-52476200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr20:52474800-52476200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr20:52474800-52476200	Weak transcription	Fetal Muscle Leg	muscle
44	chr20:52474800-52476200	Weak transcription	Fetal Stomach	stomach
45	chr20:52474800-52476200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr20:52474800-52476200	Weak transcription	K562	blood
47	chr20:52474800-52476400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr20:52474800-52479600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr20:52474800-52480000	Weak transcription	Ovary	ovary
50	chr20:52474800-52480000	Weak transcription	A549	lung

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