Variant report

Variant	nsv822655
Chromosome Location	chr4:96160867-96161545
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	chr4:96159441..96161315-chr4:96163065..96165046,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139628537	chr4:96160877-96160878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17023311	chr4:96160914-96160915	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181787055	chr4:96160915-96160916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146541164	chr4:96160935-96160936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62319066	chr4:96160942-96160943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557252788	chr4:96160988-96160989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542746848	chr4:96160991-96160992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570490515	chr4:96161015-96161016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149232704	chr4:96161061-96161062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553431178	chr4:96161089-96161090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573211104	chr4:96161186-96161187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542318856	chr4:96161208-96161209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17023315	chr4:96161231-96161232	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575534757	chr4:96161255-96161256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72672787	chr4:96161258-96161259	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373040688	chr4:96161277-96161278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185975744	chr4:96161329-96161330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7434638	chr4:96161342-96161343	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560095582	chr4:96161373-96161374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528939428	chr4:96161381-96161382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548681566	chr4:96161407-96161408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561918119	chr4:96161529-96161530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190439142	chr4:96161531-96161532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538049160	chr4:96161544-96161545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96134600-96176800	Weak transcription	Fetal Stomach	stomach
2	chr4:96140600-96163400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:96141600-96163200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:96147800-96163600	Weak transcription	Aorta	Aorta
5	chr4:96153200-96189600	Weak transcription	Fetal Kidney	kidney
6	chr4:96153800-96163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:96154400-96163400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:96154400-96166200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:96154600-96161800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:96154600-96172000	Weak transcription	Brain Substantia Nigra	brain
11	chr4:96154600-96176800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:96156600-96166200	Weak transcription	Left Ventricle	heart
13	chr4:96159400-96161800	Strong transcription	Fetal Lung	lung
14	chr4:96160400-96169400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:96160600-96161400	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:96160800-96163200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:96160800-96164200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:96161400-96162000	Enhancers	Brain Anterior Caudate	brain
19	chr4:96161400-96162200	Enhancers	Brain Hippocampus Middle	brain

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