Variant report

Variant	nsv980456
Chromosome Location	chr4:81840307-81843670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564944838	chr4:81840320-81840321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546408753	chr4:81840331-81840332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149582305	chr4:81840411-81840412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374415294	chr4:81840412-81840413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143259960	chr4:81840451-81840452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17005001	chr4:81840464-81840465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551805359	chr4:81840468-81840469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544598474	chr4:81840507-81840508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142952997	chr4:81840597-81840598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537492340	chr4:81840623-81840624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561651856	chr4:81840626-81840627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530321028	chr4:81840629-81840630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190244334	chr4:81840644-81840645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567989575	chr4:81840689-81840690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191447088	chr4:81840690-81840691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147225389	chr4:81840716-81840717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183644905	chr4:81840728-81840729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535416309	chr4:81840765-81840766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188838769	chr4:81840767-81840768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558668068	chr4:81840774-81840775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560623718	chr4:81840864-81840865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544221990	chr4:81840934-81840935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371810928	chr4:81840947-81840948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199692811	chr4:81840956-81840957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116491559	chr4:81840966-81840967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547391102	chr4:81840980-81840981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7679448	chr4:81840993-81840994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142825336	chr4:81841022-81841023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559919010	chr4:81841041-81841042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7655600	chr4:81841042-81841043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs372666518	chr4:81841054-81841055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147399402	chr4:81841058-81841059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377255336	chr4:81841111-81841112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530888716	chr4:81841150-81841151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568895506	chr4:81841152-81841153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139119270	chr4:81841172-81841173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17005002	chr4:81841185-81841186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11726370	chr4:81841222-81841223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181271342	chr4:81841224-81841225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186901584	chr4:81841226-81841227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567051210	chr4:81841237-81841238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539264192	chr4:81841242-81841243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558870948	chr4:81841247-81841248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190189686	chr4:81841258-81841259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537511182	chr4:81841267-81841268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554151160	chr4:81841309-81841310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148971352	chr4:81841319-81841320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376995650	chr4:81841320-81841321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576587944	chr4:81841350-81841351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538760665	chr4:81841362-81841363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81839600-81844200	Weak transcription	Ovary	ovary
2	chr4:81840000-81842400	Weak transcription	NHEK	skin
3	chr4:81840000-81842800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:81842400-81842800	Enhancers	Placenta	Placenta
5	chr4:81842400-81842800	Enhancers	NHEK	skin
6	chr4:81842800-81843000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:81842800-81847400	Weak transcription	NHEK	skin

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