Variant report

Variant	nsv998509
Chromosome Location	chr4:92648623-92704253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:92649464..92651523-chr4:92652088..92654167,2	MCF-7	breast:
2	chr4:92649464..92651523-chr4:92652088..92654167,2	MCF-7	breast:
3	chr4:92702026..92702759-chr6:57445422..57446224,2	MCF-7	breast:

Extended variants
information (count: 571 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575050774	chr4:92653320-92653321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542219913	chr4:92659689-92659690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111523906	chr4:92659699-92659700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35405666	chr4:92659714-92659715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539106372	chr4:92659732-92659733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528346660	chr4:92659748-92659749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6840776	chr4:92659754-92659755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576099854	chr4:92659764-92659765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151189768	chr4:92659768-92659769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565363742	chr4:92659827-92659828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572697930	chr4:92659828-92659829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541709236	chr4:92659840-92659841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185286888	chr4:92659882-92659883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563248423	chr4:92660006-92660007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530068459	chr4:92660022-92660023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112467010	chr4:92660050-92660051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552184500	chr4:92660070-92660071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563793968	chr4:92660074-92660075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115512887	chr4:92660076-92660077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552662628	chr4:92660081-92660082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190544047	chr4:92660089-92660090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181421553	chr4:92660100-92660101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149801861	chr4:92660134-92660135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551056631	chr4:92660139-92660140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547243166	chr4:92660153-92660154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145745707	chr4:92660179-92660180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111263681	chr4:92660217-92660218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555671568	chr4:92660244-92660245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35589321	chr4:92660246-92660247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143468060	chr4:92660257-92660258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573582035	chr4:92660262-92660263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536236739	chr4:92660290-92660291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148929291	chr4:92660339-92660340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576068257	chr4:92660343-92660344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538325146	chr4:92660367-92660368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558697912	chr4:92660386-92660387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113823666	chr4:92660408-92660409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541644786	chr4:92660454-92660455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186362399	chr4:92660477-92660478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147034375	chr4:92660480-92660481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543784550	chr4:92660573-92660574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191894484	chr4:92660577-92660578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182992124	chr4:92660580-92660581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6821675	chr4:92660598-92660599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559425053	chr4:92660650-92660651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147757981	chr4:92660659-92660660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547232762	chr4:92660745-92660746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567209885	chr4:92660780-92660781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536185011	chr4:92660834-92660835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550068463	chr4:92660857-92660858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92653200-92653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:92659600-92662000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:92661800-92662200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:92661800-92662400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:92662000-92662400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:92662200-92662400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:92662400-92667800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:92666200-92666400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:92666400-92667600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:92667600-92667800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:92667800-92668200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:92668200-92668400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:92676400-92677400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:92677000-92678200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:92677400-92679200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:92677800-92680600	Enhancers	HUVEC	blood vessel
17	chr4:92678200-92679800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:92679000-92680200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:92679200-92680600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:92679600-92680200	Enhancers	NH-A	brain
21	chr4:92679800-92680200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:92679800-92680200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:92680000-92680400	Enhancers	Hela-S3	cervix
24	chr4:92680200-92680600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:92686200-92686800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:92686400-92687000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:92686600-92687000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:92686800-92687200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr4:92696200-92696800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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