Variant report

Variant	nsv290501
Chromosome Location	chr4:148016540-148016771
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13134173	chr4:148016544-148016545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544299442	chr4:148016546-148016547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557773746	chr4:148016548-148016549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28488897	chr4:148016551-148016552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28649387	chr4:148016552-148016553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558313286	chr4:148016553-148016554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577601616	chr4:148016556-148016557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139795042	chr4:148016557-148016558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56766792	chr4:148016559-148016560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528302366	chr4:148016581-148016582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367916469	chr4:148016589-148016590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541616229	chr4:148016598-148016599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561822292	chr4:148016605-148016606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530567446	chr4:148016627-148016628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550685370	chr4:148016630-148016631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570495631	chr4:148016634-148016635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200579179	chr4:148016653-148016654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372697969	chr4:148016672-148016673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547333730	chr4:148016679-148016680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111066856	chr4:148016682-148016683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62651490	chr4:148016702-148016703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574534565	chr4:148016712-148016713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372459032	chr4:148016715-148016716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569426890	chr4:148016724-148016725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555194376	chr4:148016728-148016729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537985405	chr4:148016729-148016730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541759297	chr4:148016730-148016731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557810521	chr4:148016732-148016733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577635037	chr4:148016735-148016736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533895925	chr4:148016736-148016737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553239211	chr4:148016742-148016743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201863733	chr4:148016744-148016745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62864661	chr4:148016745-148016746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573004134	chr4:148016756-148016757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190303347	chr4:148016766-148016767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374467347	chr4:148016769-148016770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148009800-148017400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:148010000-148017000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:148010000-148022800	Weak transcription	NHLF	lung
4	chr4:148010200-148017800	Weak transcription	Osteobl	bone
5	chr4:148010400-148021200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:148010800-148018000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:148013200-148016800	Weak transcription	Fetal Heart	heart
8	chr4:148014800-148017600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:148016200-148017200	Weak transcription	Hela-S3	cervix
10	chr4:148016200-148017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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