Variant report

Variant	nsv978626
Chromosome Location	chr18:39346114-39352166
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:39342427..39344217-chr18:39345521..39347378,2	K562	blood:
2	chr18:39344259..39345945-chr18:39347323..39349154,2	K562	blood:
3	chr18:39348038..39348550-chr18:39486592..39487172,2	MCF-7	breast:
4	chr18:39348022..39348620-chr18:39479077..39479637,2	MCF-7	breast:

Extended variants
information (count: 233 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557128149	chr18:39346132-39346133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185452118	chr18:39346152-39346153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546459328	chr18:39346184-39346185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35630425	chr18:39346186-39346187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113463489	chr18:39346195-39346196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532450737	chr18:39346230-39346231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528455845	chr18:39346236-39346237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540286511	chr18:39346253-39346254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562126161	chr18:39346297-39346298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531372889	chr18:39346334-39346335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556977449	chr18:39346340-39346341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551142293	chr18:39346379-39346380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569858325	chr18:39346390-39346391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117673637	chr18:39346447-39346448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370109001	chr18:39346465-39346466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561427026	chr18:39346481-39346482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142462098	chr18:39346507-39346508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189914753	chr18:39346527-39346528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534569886	chr18:39346533-39346534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71352012	chr18:39346560-39346561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552696343	chr18:39346577-39346578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16975293	chr18:39346601-39346602	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182160756	chr18:39346602-39346603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34428749	chr18:39346650-39346651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576532427	chr18:39346701-39346702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556670252	chr18:39346712-39346713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376990511	chr18:39346741-39346742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546099625	chr18:39346742-39346743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13381554	chr18:39346783-39346784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558399041	chr18:39346837-39346838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573471495	chr18:39346841-39346842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144689973	chr18:39346854-39346855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73458760	chr18:39346870-39346871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529348281	chr18:39346921-39346922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188272253	chr18:39346940-39346941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562998518	chr18:39346943-39346944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530703706	chr18:39346989-39346990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565294684	chr18:39347007-39347008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192557463	chr18:39347009-39347010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147827395	chr18:39347067-39347068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183813444	chr18:39347111-39347112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76818934	chr18:39347128-39347129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567700948	chr18:39347131-39347132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188356682	chr18:39347138-39347139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs16975295	chr18:39347216-39347217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568624566	chr18:39347245-39347246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192610288	chr18:39347268-39347269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558073292	chr18:39347269-39347270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573434216	chr18:39347279-39347280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534217629	chr18:39347287-39347288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39345600-39346600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr18:39345600-39348200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:39346000-39346400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:39346000-39347200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:39346400-39346800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr18:39346600-39346800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr18:39348200-39348400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:39348200-39348800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:39348400-39349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:39349200-39350200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:39350400-39351600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr18:39351600-39353400	Enhancers	Pancreatic Islets	Pancreatic Islet

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