Variant report

Variant	esv3340260
Chromosome Location	chr4:100341229-100345527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139901645	chr4:100341259-100341260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549081396	chr4:100341264-100341265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543033795	chr4:100341285-100341286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572306870	chr4:100341288-100341289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141731063	chr4:100341332-100341333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547849585	chr4:100341341-100341342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144563947	chr4:100341350-100341351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531589723	chr4:100341380-100341381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs930478	chr4:100341381-100341382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562634057	chr4:100341421-100341422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530047073	chr4:100341427-100341428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189500307	chr4:100341436-100341437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148428639	chr4:100341443-100341444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533994514	chr4:100341479-100341480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192400140	chr4:100341506-100341507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142585452	chr4:100341517-100341518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150920714	chr4:100341523-100341524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549795487	chr4:100341549-100341550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184607157	chr4:100341567-100341568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371943586	chr4:100341580-100341581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553685168	chr4:100341600-100341601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1154460	chr4:100341643-100341644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs371817232	chr4:100341658-100341659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572269923	chr4:100341666-100341667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375206978	chr4:100341668-100341669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200563530	chr4:100341671-100341672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202189094	chr4:100341681-100341682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369188890	chr4:100341683-100341684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201718372	chr4:100341684-100341685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199514167	chr4:100341686-100341687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199972891	chr4:100341691-100341692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139516819	chr4:100341705-100341706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374938260	chr4:100341732-100341733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143235779	chr4:100341739-100341740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566626823	chr4:100341740-100341741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576525742	chr4:100341742-100341743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368178823	chr4:100341782-100341783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375067624	chr4:100341783-100341784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543439973	chr4:100341787-100341788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146193104	chr4:100341788-100341789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189036180	chr4:100341798-100341799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139072684	chr4:100341809-100341810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113993320	chr4:100341818-100341819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368994439	chr4:100341822-100341823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59534319	chr4:100341839-100341840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs148997247	chr4:100341846-100341847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142925993	chr4:100341856-100341857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs971074	chr4:100341861-100341862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
49	rs372637703	chr4:100341904-100341905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377699817	chr4:100341926-100341927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100332000-100353400	Weak transcription	Esophagus	oesophagus
2	chr4:100341800-100342000	Enhancers	Gastric	stomach

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