Variant report

Variant	esv3405813
Chromosome Location	chr4:74821488-74825686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 183 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs189229551	chr4:74821500-74821501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182019477	chr4:74821536-74821537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532199889	chr4:74821549-74821550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550414238	chr4:74821571-74821572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562458635	chr4:74821585-74821586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13128887	chr4:74821616-74821617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548496348	chr4:74821661-74821662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566809618	chr4:74821682-74821683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369112832	chr4:74821722-74821723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534100101	chr4:74821730-74821731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564315335	chr4:74821734-74821735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114142741	chr4:74821744-74821745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544158827	chr4:74821751-74821752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570560571	chr4:74821779-74821780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185865491	chr4:74821843-74821844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539073335	chr4:74821855-74821856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189812607	chr4:74821878-74821879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557220749	chr4:74821893-74821894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575585214	chr4:74821985-74821986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75313768	chr4:74821992-74821993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182016730	chr4:74822053-74822054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186220151	chr4:74822068-74822069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4694657	chr4:74822074-74822075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs565097181	chr4:74822075-74822076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560307779	chr4:74822096-74822097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191512723	chr4:74822153-74822154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4694658	chr4:74822174-74822175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77450285	chr4:74822175-74822176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10212787	chr4:74822286-74822287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs59464749	chr4:74822303-74822304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548237660	chr4:74822338-74822339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116807603	chr4:74822355-74822356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373798071	chr4:74822356-74822357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146832670	chr4:74822376-74822377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369297233	chr4:74822377-74822378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34051555	chr4:74822399-74822400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112456676	chr4:74822463-74822464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552502135	chr4:74822504-74822505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531708815	chr4:74822533-74822534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148250600	chr4:74822540-74822541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35590485	chr4:74822551-74822552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551036396	chr4:74822554-74822555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569279728	chr4:74822594-74822595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536368850	chr4:74822668-74822669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554509071	chr4:74822736-74822737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566536932	chr4:74822755-74822756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534176880	chr4:74822770-74822771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559034863	chr4:74822802-74822803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577360645	chr4:74822832-74822833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182192448	chr4:74822834-74822835	Weak transcription	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
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74810200-74844600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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