Variant report

Variant	esv3358457
Chromosome Location	chr4:100342329-100346527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574050807	chr4:100342357-100342358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189104050	chr4:100342361-100342362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531902147	chr4:100342363-100342364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560460602	chr4:100342388-100342389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572416935	chr4:100342393-100342394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545671630	chr4:100342394-100342395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564259032	chr4:100342395-100342396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531428156	chr4:100342397-100342398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181757835	chr4:100342504-100342505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112656015	chr4:100342512-100342513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376051810	chr4:100342520-100342521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186012886	chr4:100342548-100342549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547034306	chr4:100342565-100342566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553814931	chr4:100342578-100342579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111540153	chr4:100342619-100342620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191174073	chr4:100342703-100342704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115235200	chr4:100342749-100342750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112270685	chr4:100342796-100342797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150239046	chr4:100342815-100342816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531850919	chr4:100342838-100342839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371408501	chr4:100342851-100342852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555816863	chr4:100342869-100342870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145837213	chr4:100342874-100342875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1154461	chr4:100342902-100342903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565166821	chr4:100342927-100342928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563605537	chr4:100342938-100342939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186184901	chr4:100342955-100342956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532725637	chr4:100342963-100342964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190605186	chr4:100343000-100343001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148951878	chr4:100343052-100343053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143713394	chr4:100343088-100343089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374819649	chr4:100343104-100343105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183310820	chr4:100343135-100343136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561442486	chr4:100343162-100343163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529260019	chr4:100343167-100343168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187160763	chr4:100343168-100343169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548919651	chr4:100343169-100343170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532813749	chr4:100343192-100343193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552018511	chr4:100343236-100343237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562008325	chr4:100343360-100343361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190085387	chr4:100343452-100343453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373151290	chr4:100343475-100343476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182972077	chr4:100343489-100343490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148080160	chr4:100343503-100343504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534801760	chr4:100343515-100343516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547605671	chr4:100343538-100343539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553526143	chr4:100343545-100343546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571634970	chr4:100343616-100343617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369276965	chr4:100343660-100343661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570534050	chr4:100343666-100343667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100332000-100353400	Weak transcription	Esophagus	oesophagus

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