Variant report

Variant	nsv966508
Chromosome Location	chr4:18541086-18557079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs553805045	chr4:18541108-18541109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554832071	chr4:18541113-18541114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80354583	chr4:18541129-18541130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1382097	chr4:18541134-18541135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552663719	chr4:18541140-18541141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188027626	chr4:18541148-18541149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6838041	chr4:18541179-18541180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs191592003	chr4:18541200-18541201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373562243	chr4:18541202-18541203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547307696	chr4:18541204-18541205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145898238	chr4:18541210-18541211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542986524	chr4:18541267-18541268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6816319	chr4:18541314-18541315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138714761	chr4:18541315-18541316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546993458	chr4:18541394-18541395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370336672	chr4:18541413-18541414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550674857	chr4:18541426-18541427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565100617	chr4:18541479-18541480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570595550	chr4:18541480-18541481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532674274	chr4:18541542-18541543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550777132	chr4:18541547-18541548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142734381	chr4:18541596-18541597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6816934	chr4:18541631-18541632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs147352670	chr4:18541635-18541636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573048467	chr4:18541655-18541656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535396680	chr4:18541683-18541684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555112664	chr4:18541800-18541801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575073020	chr4:18541811-18541812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544033245	chr4:18541824-18541825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369849467	chr4:18541830-18541831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147504404	chr4:18541874-18541875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562742177	chr4:18541930-18541931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368607148	chr4:18541960-18541961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182999446	chr4:18541984-18541985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564230031	chr4:18542009-18542010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187989890	chr4:18542043-18542044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1477899	chr4:18542105-18542106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557083713	chr4:18542170-18542171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575371428	chr4:18542203-18542204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542847429	chr4:18542228-18542229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540572205	chr4:18542270-18542271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560294892	chr4:18542271-18542272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141596262	chr4:18542273-18542274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1477900	chr4:18542289-18542290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565311430	chr4:18542316-18542317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192257835	chr4:18542322-18542323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550518240	chr4:18542335-18542336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562643489	chr4:18542360-18542361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367902595	chr4:18542381-18542382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79436051	chr4:18542382-18542383	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18538600-18541400	Weak transcription	HUVEC	blood vessel
2	chr4:18541400-18543200	Enhancers	HUVEC	blood vessel
3	chr4:18543400-18544000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr4:18555800-18558800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:18556800-18558600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:18557000-18558600	Enhancers	HUES64 Cell Line	embryonic stem cell

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