Variant report

Variant	esv3336442
Chromosome Location	chr4:94344229-94348727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs17020586	chr4:94344254-94344255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116718168	chr4:94344404-94344405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531470057	chr4:94344409-94344410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72884570	chr4:94344460-94344461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs374019747	chr4:94344483-94344484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554663844	chr4:94344513-94344514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571439213	chr4:94344537-94344538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534006799	chr4:94344584-94344585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138185867	chr4:94344647-94344648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567556977	chr4:94344660-94344661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535479652	chr4:94344681-94344682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555374603	chr4:94344686-94344687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575310070	chr4:94344756-94344757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368329033	chr4:94344757-94344758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2200377	chr4:94344777-94344778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1905731	chr4:94344816-94344817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1905730	chr4:94344884-94344885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113896792	chr4:94344928-94344929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142765106	chr4:94344960-94344961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540824749	chr4:94344992-94344993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114543292	chr4:94344995-94344996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373227888	chr4:94345014-94345015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567040434	chr4:94345114-94345115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78174709	chr4:94345192-94345193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145881609	chr4:94345262-94345263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542243704	chr4:94345279-94345280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562497790	chr4:94345281-94345282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546754162	chr4:94345311-94345312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75521532	chr4:94345333-94345334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116327830	chr4:94345360-94345361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78097461	chr4:94345370-94345371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78926196	chr4:94345379-94345380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75835076	chr4:94345380-94345381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571377267	chr4:94345398-94345399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527451065	chr4:94345460-94345461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187405952	chr4:94345517-94345518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76238254	chr4:94345525-94345526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111772673	chr4:94345530-94345531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111340872	chr4:94345544-94345545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536573710	chr4:94345554-94345555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113792927	chr4:94345598-94345599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532044737	chr4:94345618-94345619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150629976	chr4:94345627-94345628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191743896	chr4:94345652-94345653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115404451	chr4:94345726-94345727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578082845	chr4:94345735-94345736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534119893	chr4:94345766-94345767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182996671	chr4:94345784-94345785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139768821	chr4:94345807-94345808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187426487	chr4:94345840-94345841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	20421269	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
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94338000-94353600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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