Variant report

Variant	nsv979835
Chromosome Location	chr3:53671951-53673824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53665161..53666951-chr3:53670701..53672680,2	MCF-7	breast:
2	chr3:53665440..53667601-chr3:53673312..53674885,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3774499	chr3:53671968-53671969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs3774500	chr3:53672023-53672024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs114519981	chr3:53672038-53672039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547514513	chr3:53672042-53672043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567314523	chr3:53672048-53672049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181276752	chr3:53672095-53672096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529670362	chr3:53672096-53672097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576403936	chr3:53672107-53672108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550099754	chr3:53672110-53672111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537113818	chr3:53672144-53672145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs754063	chr3:53672190-53672191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552120173	chr3:53672194-53672195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7623599	chr3:53672212-53672213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574103010	chr3:53672215-53672216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113961389	chr3:53672308-53672309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562613952	chr3:53672352-53672353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554633813	chr3:53672376-53672377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574494964	chr3:53672459-53672460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185871126	chr3:53672460-53672461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557248549	chr3:53672467-53672468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9819463	chr3:53672471-53672472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190290656	chr3:53672490-53672491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143106855	chr3:53672537-53672538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2612019	chr3:53672545-53672546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541133367	chr3:53672580-53672581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34076625	chr3:53672584-53672585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561712007	chr3:53672610-53672611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529738794	chr3:53672622-53672623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549771425	chr3:53672652-53672653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563281166	chr3:53672741-53672742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181437653	chr3:53672820-53672821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148274584	chr3:53672826-53672827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552443788	chr3:53672839-53672840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565777621	chr3:53672869-53672870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534768188	chr3:53672871-53672872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548297400	chr3:53672924-53672925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568180838	chr3:53672958-53672959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537131047	chr3:53672984-53672985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150796651	chr3:53673015-53673016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577164580	chr3:53673025-53673026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539782240	chr3:53673041-53673042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553586868	chr3:53673072-53673073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573363349	chr3:53673106-53673107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542415925	chr3:53673141-53673142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186843379	chr3:53673157-53673158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115087009	chr3:53673195-53673196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192139766	chr3:53673239-53673240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563184429	chr3:53673246-53673247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs578258760	chr3:53673263-53673264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532124347	chr3:53673290-53673291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53652800-53684000	Weak transcription	Right Atrium	heart
2	chr3:53666400-53681400	Weak transcription	Fetal Lung	lung
3	chr3:53667600-53680600	Weak transcription	Fetal Intestine Large	intestine
4	chr3:53668200-53672600	Weak transcription	Stomach Mucosa	stomach
5	chr3:53670600-53674800	Weak transcription	Fetal Intestine Small	intestine
6	chr3:53670600-53676400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:53672600-53674200	Enhancers	Stomach Mucosa	stomach

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