Variant report

Variant	nsv962963
Chromosome Location	chr18:40247674-40250567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542829766	chr18:40247721-40247722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557530420	chr18:40247757-40247758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139463418	chr18:40247781-40247782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573082698	chr18:40247782-40247783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369512712	chr18:40247796-40247797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565161971	chr18:40247821-40247822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143382654	chr18:40247830-40247831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182336005	chr18:40247831-40247832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559520257	chr18:40247856-40247857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369197493	chr18:40247862-40247863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529719741	chr18:40247909-40247910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12456082	chr18:40247910-40247911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547863101	chr18:40247931-40247932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12458705	chr18:40247945-40247946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs72897467	chr18:40247954-40247955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551767971	chr18:40247974-40247975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187705194	chr18:40248026-40248027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540112069	chr18:40248062-40248063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16976545	chr18:40248072-40248073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553258594	chr18:40248092-40248093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556914174	chr18:40248138-40248139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9954277	chr18:40248157-40248158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs193249423	chr18:40248164-40248165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147171951	chr18:40248166-40248167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185710275	chr18:40248177-40248178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190178015	chr18:40248187-40248188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115663996	chr18:40248199-40248200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537424608	chr18:40248231-40248232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541332783	chr18:40248285-40248286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117674013	chr18:40248302-40248303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529875090	chr18:40248330-40248331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541666238	chr18:40248333-40248334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111423370	chr18:40248342-40248343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9954391	chr18:40248349-40248350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553521605	chr18:40248350-40248351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142106110	chr18:40248401-40248402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs16976546	chr18:40248411-40248412	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112273468	chr18:40248420-40248421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192957420	chr18:40248447-40248448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562419476	chr18:40248460-40248461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs16976547	chr18:40248481-40248482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4632207	chr18:40248511-40248512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536047960	chr18:40248545-40248546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551205785	chr18:40248551-40248552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs8097737	chr18:40248555-40248556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183868996	chr18:40248563-40248564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78002675	chr18:40248635-40248636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188595328	chr18:40248656-40248657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114175547	chr18:40248662-40248663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180696998	chr18:40248686-40248687	Enhancers 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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40246800-40250000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr18:40248400-40249400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr18:40248600-40249400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr18:40248600-40249600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:40248600-40250400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:40250200-40250400	Enhancers	HUES6 Cell Line	embryonic stem cell

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