Variant report

Variant	nsv980233
Chromosome Location	chr4:100203481-100205555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184952784	chr4:100203481-100203482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538532214	chr4:100203493-100203494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544708432	chr4:100203511-100203512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61732103	chr4:100203516-100203517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201934016	chr4:100203517-100203518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377281291	chr4:100203533-100203534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142147619	chr4:100203535-100203536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369396984	chr4:100203551-100203552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74651785	chr4:100203654-100203655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56191095	chr4:100203662-100203663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61732104	chr4:100203665-100203666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61732097	chr4:100203683-100203684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141185921	chr4:100203700-100203701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61732099	chr4:100203708-100203709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376970230	chr4:100203718-100203719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137874792	chr4:100203735-100203736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561451769	chr4:100203741-100203742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192109758	chr4:100203749-100203750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547619652	chr4:100203922-100203923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540793901	chr4:100203966-100203967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28364320	chr4:100203982-100203983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539398457	chr4:100204061-100204062	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555859507	chr4:100204069-100204070	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74788547	chr4:100204070-100204071	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532601176	chr4:100204079-100204080	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536364361	chr4:100204080-100204081	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554659981	chr4:100204092-100204093	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551139806	chr4:100204101-100204102	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13126850	chr4:100204105-100204106	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141829150	chr4:100204135-100204136	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530069651	chr4:100204154-100204155	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184509694	chr4:100204162-100204163	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576102810	chr4:100204180-100204181	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28364319	chr4:100204226-100204227	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368531473	chr4:100204292-100204293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188907384	chr4:100204356-100204357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59033663	chr4:100204367-100204368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1229970	chr4:100204380-100204381	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538337042	chr4:100204394-100204395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572673425	chr4:100204428-100204429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537017106	chr4:100204498-100204499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541784491	chr4:100204561-100204562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139131950	chr4:100204573-100204574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3805324	chr4:100204574-100204575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375947531	chr4:100204579-100204580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146495893	chr4:100204630-100204631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182547516	chr4:100204635-100204636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57948582	chr4:100204655-100204656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28364318	chr4:100204663-100204664	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577494879	chr4:100204728-100204729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100189400-100212400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:100192400-100205600	Weak transcription	Aorta	Aorta
3	chr4:100196200-100210800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:100197600-100205000	Strong transcription	Liver	Liver
5	chr4:100198000-100214600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:100203000-100209200	Weak transcription	Fetal Lung	lung
7	chr4:100204000-100204200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:100204200-100214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:100205000-100206000	Genic enhancers	Liver	Liver

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