Variant report

Variant	nsv290335
Chromosome Location	chr4:94785737-94791773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:94786106..94788716-chr4:95078426..95081132,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564352017	chr4:94788203-94788204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547760320	chr4:94788231-94788232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546233439	chr4:94788232-94788233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558813468	chr4:94788233-94788234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146296713	chr4:94788234-94788235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189514984	chr4:94788279-94788280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12650891	chr4:94788391-94788392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs13118763	chr4:94788464-94788465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs201349528	chr4:94788473-94788474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568123451	chr4:94788479-94788480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550888157	chr4:94788498-94788499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77502484	chr4:94788500-94788501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570827816	chr4:94788530-94788531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139544205	chr4:94788562-94788563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144290738	chr4:94788574-94788575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79335623	chr4:94788580-94788581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535578111	chr4:94788584-94788585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569721339	chr4:94788628-94788629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181889503	chr4:94788660-94788661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185708826	chr4:94788663-94788664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188996750	chr4:94788671-94788672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544062934	chr4:94788729-94788730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557949187	chr4:94788853-94788854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111870857	chr4:94788854-94788855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578014891	chr4:94788878-94788879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536059901	chr4:94788883-94788884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537553355	chr4:94788892-94788893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540486534	chr4:94788919-94788920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558620372	chr4:94788954-94788955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181178174	chr4:94788968-94788969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76429398	chr4:94788971-94788972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540310613	chr4:94788988-94788989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186666624	chr4:94789026-94789027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4693346	chr4:94789036-94789037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550786007	chr4:94789069-94789070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564297059	chr4:94789096-94789097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534677852	chr4:94789105-94789106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386677344	chr4:94789121-94789122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76265091	chr4:94789122-94789123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140311561	chr4:94789135-94789136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570283134	chr4:94789146-94789147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542130609	chr4:94789162-94789163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554313409	chr4:94789180-94789181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535084120	chr4:94789207-94789208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549098380	chr4:94789238-94789239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114192840	chr4:94789253-94789254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537910939	chr4:94789254-94789255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190715988	chr4:94789270-94789271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145283719	chr4:94789271-94789272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148654114	chr4:94789442-94789443	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD
Glioma	20126413	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94788200-94790600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr4:94790600-94790800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:94790800-94791200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr4:94791200-94794800	Weak transcription	Rectal Mucosa Donor 31	rectum

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