Variant report

Variant	nsv969242
Chromosome Location	chr5:106364690-106370107
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	chr5:106354055..106355877-chr5:106363964..106366429,2	MCF-7	breast:

Extended variants
information (count: 214 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578174903	chr5:106364715-106364716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543801198	chr5:106364783-106364784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148146376	chr5:106364818-106364819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574360424	chr5:106364848-106364849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577824593	chr5:106364886-106364887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540157432	chr5:106364888-106364889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543322257	chr5:106364892-106364893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559830716	chr5:106364915-106364916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528662126	chr5:106364935-106364936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545323592	chr5:106365006-106365007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200991436	chr5:106365052-106365053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564983386	chr5:106365077-106365078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181384419	chr5:106365083-106365084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142920097	chr5:106365102-106365103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146094170	chr5:106365149-106365150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529901475	chr5:106365168-106365169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546855010	chr5:106365235-106365236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117524914	chr5:106365250-106365251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573545788	chr5:106365275-106365276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535166854	chr5:106365315-106365316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538819013	chr5:106365321-106365322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112609137	chr5:106365431-106365432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6871488	chr5:106365499-106365500	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142037247	chr5:106365502-106365503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186258757	chr5:106365509-106365510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13160964	chr5:106365510-106365511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570634389	chr5:106365517-106365518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4073518	chr5:106365546-106365547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146313992	chr5:106365582-106365583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546201727	chr5:106365593-106365594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77427437	chr5:106365618-106365619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551522555	chr5:106365639-106365640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573166297	chr5:106365657-106365658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139243740	chr5:106365658-106365659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527935241	chr5:106365718-106365719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191062811	chr5:106365775-106365776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182074298	chr5:106365777-106365778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74974903	chr5:106365800-106365801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149752195	chr5:106365812-106365813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4073517	chr5:106365839-106365840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs529450746	chr5:106365857-106365858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544705776	chr5:106365899-106365900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560683236	chr5:106365906-106365907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529640531	chr5:106365907-106365908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546321810	chr5:106365909-106365910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560357095	chr5:106365927-106365928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186232134	chr5:106365945-106365946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552321784	chr5:106365994-106365995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569088558	chr5:106366015-106366016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190703763	chr5:106366030-106366031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106362800-106367600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:106365200-106366400	Enhancers	Fetal Heart	heart
3	chr5:106366400-106370200	Weak transcription	Fetal Heart	heart
4	chr5:106367600-106368600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:106368000-106368400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:106368000-106369000	Enhancers	HUVEC	blood vessel

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