Variant report

Variant	esv3450735
Chromosome Location	chr4:98446823-98472678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 463 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565510176	chr4:98446841-98446842	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539259223	chr4:98446887-98446888	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs113801414	chr4:98446900-98446901	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs200719682	chr4:98446917-98446918	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147885501	chr4:98446948-98446949	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569863079	chr4:98446983-98446984	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537042083	chr4:98447017-98447018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141557916	chr4:98447071-98447072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191842425	chr4:98447088-98447089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147028235	chr4:98447113-98447114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36053233	chr4:98447121-98447122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34760817	chr4:98447192-98447193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184313895	chr4:98447224-98447225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188984665	chr4:98447251-98447252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111487841	chr4:98447301-98447302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545617782	chr4:98447435-98447436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58900515	chr4:98447481-98447482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368979837	chr4:98447507-98447508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564166717	chr4:98447566-98447567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563291679	chr4:98447616-98447617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576243392	chr4:98447628-98447629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187574554	chr4:98447644-98447645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147696673	chr4:98447674-98447675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528902994	chr4:98447696-98447697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190508511	chr4:98447716-98447717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369299111	chr4:98447730-98447731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180832562	chr4:98447755-98447756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574249189	chr4:98447769-98447770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140986656	chr4:98447828-98447829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186117104	chr4:98447879-98447880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190239123	chr4:98447900-98447901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548228754	chr4:98447926-98447927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569801690	chr4:98447943-98447944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537581654	chr4:98447974-98447975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55715770	chr4:98448003-98448004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549234994	chr4:98448008-98448009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540156387	chr4:98448012-98448013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567620094	chr4:98448029-98448030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534715750	chr4:98448031-98448032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553653910	chr4:98448086-98448087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10026810	chr4:98448087-98448088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375137523	chr4:98448097-98448098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7688240	chr4:98448119-98448120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537199485	chr4:98448137-98448138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369918959	chr4:98448153-98448154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182693433	chr4:98448156-98448157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557621851	chr4:98448169-98448170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113194511	chr4:98448183-98448184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369693762	chr4:98448214-98448215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558248953	chr4:98448235-98448236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98446600-98447000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:98446600-98447000	Flanking Active TSS	HUVEC	blood vessel
3	chr4:98447000-98447200	Enhancers	HUVEC	blood vessel
4	chr4:98447200-98451600	Weak transcription	HUVEC	blood vessel
5	chr4:98451600-98452600	Enhancers	HUVEC	blood vessel
6	chr4:98451800-98452200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:98465800-98466400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:98465800-98466600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:98465800-98466800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:98465800-98467000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:98466000-98466600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:98466000-98466600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:98466000-98466800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:98466000-98467200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:98466200-98466800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:98466200-98466800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:98466800-98478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:98470600-98472800	Enhancers	Dnd41	blood

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