Variant report

Variant	esv3394424
Chromosome Location	chr4:98737079-98741777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564934534	chr4:98738440-98738441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532696051	chr4:98738443-98738444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181113062	chr4:98738558-98738559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1456204	chr4:98738568-98738569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530267571	chr4:98738661-98738662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555126264	chr4:98738697-98738698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185667132	chr4:98738769-98738770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs649866	chr4:98738826-98738827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190474923	chr4:98738898-98738899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181652732	chr4:98738899-98738900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571249779	chr4:98739026-98739027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186173214	chr4:98739052-98739053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557195060	chr4:98739062-98739063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146389941	chr4:98739075-98739076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191872696	chr4:98739121-98739122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35111484	chr4:98739123-98739124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147125201	chr4:98739165-98739166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184114525	chr4:98739187-98739188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544380351	chr4:98739196-98739197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573048346	chr4:98739224-98739225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540308576	chr4:98739228-98739229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562569542	chr4:98739357-98739358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76424746	chr4:98739387-98739388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529232149	chr4:98739401-98739402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138539489	chr4:98739442-98739443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551540575	chr4:98739469-98739470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185787351	chr4:98739488-98739489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530316646	chr4:98739489-98739490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568075	chr4:98739524-98739525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143866309	chr4:98739525-98739526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191037604	chr4:98739540-98739541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143244903	chr4:98739546-98739547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546685325	chr4:98739600-98739601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373396985	chr4:98739601-98739602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571286858	chr4:98739620-98739621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13103769	chr4:98739640-98739641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550612807	chr4:98739641-98739642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569174051	chr4:98739642-98739643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182668191	chr4:98739652-98739653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113324103	chr4:98739683-98739684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34218233	chr4:98739698-98739699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527287580	chr4:98739711-98739712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572686909	chr4:98739732-98739733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77950260	chr4:98739766-98739767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549384266	chr4:98739824-98739825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529498124	chr4:98739845-98739846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577177919	chr4:98739872-98739873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544631909	chr4:98739888-98739889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562734122	chr4:98739899-98739900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370778727	chr4:98739936-98739937	Enhancers	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
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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98738200-98741200	Enhancers	HUVEC	blood vessel

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