Variant report

Variant	nsv980140
Chromosome Location	chr4:78238556-78240882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567152178	chr4:78238588-78238589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10003257	chr4:78238620-78238621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556912883	chr4:78238621-78238622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574060525	chr4:78238635-78238636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542803984	chr4:78238658-78238659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559686236	chr4:78238663-78238664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117234480	chr4:78238668-78238669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140336674	chr4:78238699-78238700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188056099	chr4:78238704-78238705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113217190	chr4:78238723-78238724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17401714	chr4:78238724-78238725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191593702	chr4:78238752-78238753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184117545	chr4:78238776-78238777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572633544	chr4:78238778-78238779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143312512	chr4:78238790-78238791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187263126	chr4:78238798-78238799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528973927	chr4:78238805-78238806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9884375	chr4:78238884-78238885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565442668	chr4:78238897-78238898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558348610	chr4:78238916-78238917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147536866	chr4:78238934-78238935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140040913	chr4:78238954-78238955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150039859	chr4:78238997-78238998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145232613	chr4:78239032-78239033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557119197	chr4:78239076-78239077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148738164	chr4:78239092-78239093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114021940	chr4:78239108-78239109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9884379	chr4:78239114-78239115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75427370	chr4:78239138-78239139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545386450	chr4:78239148-78239149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565312234	chr4:78239159-78239160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575986133	chr4:78239167-78239168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9884380	chr4:78239190-78239191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs561635597	chr4:78239198-78239199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142369616	chr4:78239209-78239210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530079977	chr4:78239239-78239240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547195056	chr4:78239297-78239298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558991806	chr4:78239306-78239307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375971480	chr4:78239353-78239354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528208655	chr4:78239382-78239383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10470969	chr4:78239399-78239400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192195124	chr4:78239400-78239401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537345204	chr4:78239431-78239432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146784712	chr4:78239441-78239442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17401756	chr4:78239445-78239446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140561679	chr4:78239462-78239463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551861785	chr4:78239472-78239473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185512206	chr4:78239483-78239484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17410343	chr4:78239491-78239492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10470970	chr4:78239541-78239542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78233200-78240600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:78240600-78241200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links