Variant report

Variant	nsv978722
Chromosome Location	chr18:30680573-30689432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 236 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:236 , 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	rs575617538	chr18:30680601-30680602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184123495	chr18:30680605-30680606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79473090	chr18:30680756-30680757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189288063	chr18:30680757-30680758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530270817	chr18:30680763-30680764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs961769	chr18:30680782-30680783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542418722	chr18:30680810-30680811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62090754	chr18:30680853-30680854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527807441	chr18:30680866-30680867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180862101	chr18:30680974-30680975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149004425	chr18:30681064-30681065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531705749	chr18:30681162-30681163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549852124	chr18:30681204-30681205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143470466	chr18:30681281-30681282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549901961	chr18:30681284-30681285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs271485	chr18:30681407-30681408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553574791	chr18:30681421-30681422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566471731	chr18:30681480-30681481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187259599	chr18:30681490-30681491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539183427	chr18:30681560-30681561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190444300	chr18:30681591-30681592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576001455	chr18:30681612-30681613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75116220	chr18:30681653-30681654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555022582	chr18:30681690-30681691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182523769	chr18:30681743-30681744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202198147	chr18:30681749-30681750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542128657	chr18:30681790-30681791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145886436	chr18:30681819-30681820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186010868	chr18:30681830-30681831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190823037	chr18:30681844-30681845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530102468	chr18:30681863-30681864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs271486	chr18:30681915-30681916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531674110	chr18:30681972-30681973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550154537	chr18:30681999-30682000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368795014	chr18:30682020-30682021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568336432	chr18:30682069-30682070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529206247	chr18:30682115-30682116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547274963	chr18:30682135-30682136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182652588	chr18:30682139-30682140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539246841	chr18:30682157-30682158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138706354	chr18:30682161-30682162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs271487	chr18:30682303-30682304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536701023	chr18:30682314-30682315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375469388	chr18:30682382-30682383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74470860	chr18:30682388-30682389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535079598	chr18:30682389-30682390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192430	chr18:30682408-30682409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555362756	chr18:30682550-30682551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78367289	chr18:30682607-30682608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142817797	chr18:30682610-30682611	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30679200-30682000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:30679400-30680600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:30682000-30683000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:30683000-30685000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:30685000-30685400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:30685400-30687400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:30687400-30688600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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