Variant report

Variant	nsv961145
Chromosome Location	chr18:27921581-27934857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:27919683..27922668-chr18:27923023..27925040,3	K562	blood:
2	chr11:63617973..63618740-chr18:27921793..27922523,2	MCF-7	breast:
3	chr18:27919683..27921572-chr18:27922150..27924523,2	K562	blood:
4	chr18:27922835..27924708-chr18:27937344..27940179,2	K562	blood:
5	chr18:27919683..27922668-chr18:27923023..27925040,3	K562	blood:
6	chr18:27928932..27930487-chr18:27936951..27939777,2	K562	blood:

Extended variants
information (count: 171 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs145308253	chr18:27922603-27922604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184672307	chr18:27922641-27922642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78689657	chr18:27922674-27922675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530569176	chr18:27922679-27922680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140462976	chr18:27922699-27922700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112071322	chr18:27922700-27922701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560995858	chr18:27922709-27922710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372009768	chr18:27922727-27922728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62078681	chr18:27922731-27922732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544105632	chr18:27922751-27922752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34981069	chr18:27922760-27922761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188995210	chr18:27922763-27922764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150428597	chr18:27922816-27922817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4617937	chr18:27922857-27922858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12456743	chr18:27922922-27922923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550808849	chr18:27922927-27922928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569044574	chr18:27922928-27922929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138241805	chr18:27922947-27922948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374900140	chr18:27922969-27922970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568448030	chr18:27922990-27922991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561253456	chr18:27923020-27923021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182598747	chr18:27923057-27923058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78226877	chr18:27923059-27923060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113564114	chr18:27923072-27923073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34563098	chr18:27923091-27923092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369970016	chr18:27923106-27923107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7228928	chr18:27923135-27923136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553155839	chr18:27923136-27923137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185529917	chr18:27923142-27923143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578093645	chr18:27923153-27923154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545263885	chr18:27923167-27923168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199524340	chr18:27923175-27923176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201742048	chr18:27923185-27923186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557682911	chr18:27923220-27923221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150661348	chr18:27923224-27923225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111968656	chr18:27923231-27923232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4591219	chr18:27923254-27923255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568799540	chr18:27923293-27923294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386802030	chr18:27923306-27923307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11875574	chr18:27923308-27923309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566274255	chr18:27923317-27923318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564939113	chr18:27923320-27923321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533652787	chr18:27923321-27923322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558285462	chr18:27923332-27923333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368939100	chr18:27923363-27923364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs16947888	chr18:27923379-27923380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531865862	chr18:27923384-27923385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553731596	chr18:27923458-27923459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1344050	chr18:27923561-27923562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7230821	chr18:27923600-27923601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:27922600-27923400	Enhancers	Colon Smooth Muscle	Colon
2	chr18:27923400-27923600	Weak transcription	Colon Smooth Muscle	Colon
3	chr18:27923600-27924000	Enhancers	Colon Smooth Muscle	Colon
4	chr18:27924000-27924800	Weak transcription	Colon Smooth Muscle	Colon
5	chr18:27924200-27924800	Enhancers	Rectal Smooth Muscle	rectum
6	chr18:27924800-27925200	Enhancers	Colon Smooth Muscle	Colon
7	chr18:27927400-27927800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:27932600-27932800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:27933600-27933800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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