Variant report

Variant	nsv964301
Chromosome Location	chr4:92144154-92148542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560814376	chr4:92144164-92144165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528106661	chr4:92144165-92144166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57497886	chr4:92144203-92144204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397699011	chr4:92144210-92144211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576858925	chr4:92144285-92144286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12506868	chr4:92144381-92144382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182509487	chr4:92144397-92144398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544667712	chr4:92144417-92144418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4491986	chr4:92144469-92144470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527248649	chr4:92144476-92144477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116259394	chr4:92144497-92144498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201804747	chr4:92144521-92144522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561278518	chr4:92144551-92144552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72875137	chr4:92144562-92144563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549977257	chr4:92144563-92144564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569852160	chr4:92144629-92144630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532670339	chr4:92144698-92144699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552656130	chr4:92144725-92144726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140757216	chr4:92144727-92144728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535058386	chr4:92144739-92144740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560776929	chr4:92144871-92144872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59066405	chr4:92144941-92144942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537326974	chr4:92144976-92144977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552273608	chr4:92145011-92145012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564649212	chr4:92145015-92145016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369045378	chr4:92145036-92145037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11730949	chr4:92145041-92145042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185985544	chr4:92145058-92145059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72875138	chr4:92145081-92145082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558191374	chr4:92145099-92145100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571800922	chr4:92145118-92145119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200205225	chr4:92145145-92145146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541068302	chr4:92145156-92145157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191783984	chr4:92145198-92145199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34962423	chr4:92145209-92145210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574832884	chr4:92145210-92145211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398063800	chr4:92145220-92145221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183310015	chr4:92145251-92145252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150092089	chr4:92145274-92145275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148066309	chr4:92145319-92145320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116633789	chr4:92145373-92145374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189153087	chr4:92145374-92145375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568330720	chr4:92145406-92145407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552390984	chr4:92145413-92145414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559932429	chr4:92145467-92145468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553867235	chr4:92145493-92145494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143424315	chr4:92145515-92145516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193009400	chr4:92145562-92145563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182332355	chr4:92145596-92145597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113670958	chr4:92145599-92145600	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
Chronic lymphocytic leukemia	18922857	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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92143800-92145400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:92145400-92145800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:92145800-92146800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:92146800-92147000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:92147000-92147600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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