Variant report

Variant	nsv966296
Chromosome Location	chr4:90652076-90654451
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	chr4:90653920..90656361-chr4:90657437..90659959,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139861918	chr4:90652145-90652146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528738123	chr4:90652174-90652175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373774560	chr4:90652212-90652213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192478761	chr4:90652236-90652237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34262102	chr4:90652268-90652269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201866925	chr4:90652289-90652290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199742433	chr4:90652297-90652298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34840261	chr4:90652298-90652299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35945367	chr4:90652321-90652322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527322211	chr4:90652340-90652341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548800035	chr4:90652347-90652348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560599879	chr4:90652382-90652383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs36124975	chr4:90652389-90652390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569348586	chr4:90652394-90652395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539854609	chr4:90652402-90652403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17016083	chr4:90652407-90652408	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72657724	chr4:90652498-90652499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534089417	chr4:90652566-90652567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555312740	chr4:90652584-90652585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573763897	chr4:90652605-90652606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571139227	chr4:90652616-90652617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543929985	chr4:90652617-90652618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34143751	chr4:90652627-90652628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550928961	chr4:90652648-90652649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191794479	chr4:90652670-90652671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377279566	chr4:90652679-90652680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544608516	chr4:90652686-90652687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35646314	chr4:90652688-90652689	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547712197	chr4:90652691-90652692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150048199	chr4:90652737-90652738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540908549	chr4:90652742-90652743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562175410	chr4:90652786-90652787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529535641	chr4:90652794-90652795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551641278	chr4:90652820-90652821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551158280	chr4:90652830-90652831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536602779	chr4:90652875-90652876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113712369	chr4:90652894-90652895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555013814	chr4:90652909-90652910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569380982	chr4:90652933-90652934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576571970	chr4:90652955-90652956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533415713	chr4:90652990-90652991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183869433	chr4:90652997-90652998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566847262	chr4:90653001-90653002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533875612	chr4:90653012-90653013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80001943	chr4:90653019-90653020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372908304	chr4:90653021-90653022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75663865	chr4:90653059-90653060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567195532	chr4:90653066-90653067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36113443	chr4:90653074-90653075	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577400012	chr4:90653080-90653081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Multiple myeloma	17550852	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
Parkinson disease	20733075	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90640800-90659000	Weak transcription	HMEC	breast
2	chr4:90640800-90659200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:90642800-90668800	Weak transcription	Brain Substantia Nigra	brain
4	chr4:90646000-90659200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:90646400-90661000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:90646800-90674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:90647200-90652600	Strong transcription	HUVEC	blood vessel
8	chr4:90648000-90668000	Weak transcription	Ovary	ovary
9	chr4:90648200-90673400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:90648600-90660000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:90648800-90667200	Weak transcription	Fetal Lung	lung
12	chr4:90649200-90658800	Weak transcription	NHEK	skin
13	chr4:90649400-90674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:90649400-90696400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:90650400-90659400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:90650600-90660000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:90650600-90663000	Weak transcription	Dnd41	blood
18	chr4:90650800-90656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:90650800-90664200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:90651400-90652200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:90652200-90653600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:90652600-90658000	Weak transcription	HUVEC	blood vessel
23	chr4:90653600-90655200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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