Variant report

Variant	esv3415787
Chromosome Location	chr4:98750536-98763609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183914991	chr4:98756832-98756833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7679726	chr4:98756844-98756845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188645907	chr4:98756850-98756851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181258540	chr4:98756852-98756853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546005568	chr4:98756877-98756878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199790205	chr4:98756879-98756880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115320730	chr4:98756941-98756942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551933027	chr4:98756955-98756956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570361075	chr4:98756986-98756987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142695504	chr4:98756987-98756988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534405053	chr4:98757167-98757168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79604162	chr4:98757175-98757176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111966756	chr4:98757200-98757201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182719249	chr4:98760010-98760011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35754404	chr4:98760041-98760042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528294429	chr4:98760043-98760044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115637858	chr4:98760095-98760096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77126077	chr4:98760128-98760129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs207464912	chr4:98760153-98760154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376649114	chr4:98760179-98760180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369935139	chr4:98760193-98760194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555544224	chr4:98760306-98760307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567323392	chr4:98760321-98760322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535137043	chr4:98760385-98760386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112217219	chr4:98760391-98760392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577696493	chr4:98760410-98760411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187371744	chr4:98760468-98760469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150985815	chr4:98760561-98760562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140823030	chr4:98760641-98760642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72617713	chr4:98760660-98760661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561553030	chr4:98760674-98760675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528643066	chr4:98760692-98760693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540804556	chr4:98760731-98760732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559517643	chr4:98760758-98760759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550546053	chr4:98760828-98760829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72881449	chr4:98760842-98760843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368062827	chr4:98760864-98760865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138904842	chr4:98760871-98760872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192999168	chr4:98760886-98760887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567538513	chr4:98760889-98760890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529660645	chr4:98760944-98760945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534545681	chr4:98760954-98760955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370428915	chr4:98760970-98760971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367799101	chr4:98762884-98762885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183992815	chr4:98762892-98762893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542300595	chr4:98762896-98762897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560900272	chr4:98762905-98762906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143919909	chr4:98762924-98762925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113102159	chr4:98762928-98762929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs165253	chr4:98763038-98763039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98756800-98757200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:98760000-98761000	Enhancers	Dnd41	blood
3	chr4:98760800-98761000	Enhancers	Liver	Liver
4	chr4:98762800-98763400	Enhancers	Liver	Liver
5	chr4:98763000-98764000	Enhancers	HUVEC	blood vessel
6	chr4:98763400-98767000	Weak transcription	Liver	Liver

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