Variant report

Variant	nsv1014030
Chromosome Location	chr4:96721030-96735608
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	chr4:96720160..96722789-chr4:96726350..96727999,2	K562	blood:
2	chr4:96720160..96722789-chr4:96726350..96727999,2	K562	blood:

Extended variants
information (count: 200 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs11946552	chr4:96721030-96721031	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569943862	chr4:96721031-96721032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187354941	chr4:96721144-96721145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112535530	chr4:96721154-96721155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192353550	chr4:96721181-96721182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144004929	chr4:96721187-96721188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528364893	chr4:96721189-96721190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368626517	chr4:96721201-96721202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546533485	chr4:96721206-96721207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541753205	chr4:96721255-96721256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183733347	chr4:96721322-96721323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28618209	chr4:96721346-96721347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574339178	chr4:96721354-96721355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543069839	chr4:96721360-96721361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562982271	chr4:96721376-96721377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531876917	chr4:96721436-96721437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17471302	chr4:96721451-96721452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs28526484	chr4:96721499-96721500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568833008	chr4:96721500-96721501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73839634	chr4:96721533-96721534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79153412	chr4:96721579-96721580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567676954	chr4:96721581-96721582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144043778	chr4:96721590-96721591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372823025	chr4:96721597-96721598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188701297	chr4:96721659-96721660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377302608	chr4:96721662-96721663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190604914	chr4:96721665-96721666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62306995	chr4:96721666-96721667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182838668	chr4:96721692-96721693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367805813	chr4:96721698-96721699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552502229	chr4:96721713-96721714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143225564	chr4:96721721-96721722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534531425	chr4:96721729-96721730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554618068	chr4:96721730-96721731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187085031	chr4:96721731-96721732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146607242	chr4:96721733-96721734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191571907	chr4:96721773-96721774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576434710	chr4:96721774-96721775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574396306	chr4:96721801-96721802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149203474	chr4:96721808-96721809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563708857	chr4:96721826-96721827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372717899	chr4:96721921-96721922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7680705	chr4:96721935-96721936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375976469	chr4:96721947-96721948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182926178	chr4:96721958-96721959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187514249	chr4:96721970-96721971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369949661	chr4:96721987-96721988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193258580	chr4:96722019-96722020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143336498	chr4:96722045-96722046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374300824	chr4:96722127-96722128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96720000-96721200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:96721000-96721200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:96721000-96721400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:96721400-96722400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:96722200-96723400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:96722200-96723600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:96722400-96724200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:96734200-96736200	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links