Variant report

Variant	nsv432617
Chromosome Location	chr4:96627548-96646841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 357 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6843996	chr4:96627548-96627549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577677426	chr4:96627550-96627551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556070921	chr4:96627555-96627556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6821324	chr4:96627583-96627584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6844205	chr4:96627619-96627620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75783795	chr4:96627620-96627621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370716540	chr4:96627627-96627628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143210228	chr4:96627672-96627673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527356028	chr4:96627683-96627684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76163158	chr4:96627700-96627701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561298060	chr4:96627732-96627733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151139264	chr4:96627741-96627742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531953806	chr4:96627751-96627752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570891177	chr4:96627795-96627796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190040986	chr4:96627842-96627843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546926383	chr4:96627874-96627875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546471231	chr4:96627885-96627886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566752877	chr4:96627887-96627888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9993422	chr4:96627888-96627889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182289304	chr4:96627905-96627906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56218239	chr4:96627933-96627934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532539466	chr4:96627949-96627950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537612907	chr4:96628046-96628047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10005387	chr4:96628047-96628048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9993596	chr4:96628073-96628074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs111914366	chr4:96628084-96628085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560234551	chr4:96628086-96628087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573539885	chr4:96628123-96628124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186041221	chr4:96628169-96628170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139616511	chr4:96628176-96628177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114514660	chr4:96628185-96628186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574319406	chr4:96628212-96628213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115181603	chr4:96628226-96628227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73842157	chr4:96628230-96628231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567329318	chr4:96628258-96628259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543239118	chr4:96628418-96628419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533624088	chr4:96628481-96628482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538079482	chr4:96628513-96628514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571372421	chr4:96628531-96628532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532455367	chr4:96628532-96628533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556030508	chr4:96628550-96628551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111300984	chr4:96628610-96628611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544906192	chr4:96628631-96628632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1370004	chr4:96628653-96628654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568769789	chr4:96628692-96628693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537749300	chr4:96628693-96628694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190897984	chr4:96628717-96628718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547129248	chr4:96628721-96628722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1370003	chr4:96628744-96628745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34078728	chr4:96628759-96628760	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96623800-96628000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:96628000-96628200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:96628200-96628400	Enhancers	Aorta	Aorta
4	chr4:96628200-96629000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:96629000-96629200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:96632800-96636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:96635000-96636600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:96636400-96637600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:96636600-96637400	Enhancers	HMEC	breast
10	chr4:96636800-96637400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:96637000-96637600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:96637400-96638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:96638400-96638600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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