Variant report

Variant	nsv965605
Chromosome Location	chr5:98702033-98710864
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	chr5:98687563..98689159-chr5:98702688..98704857,2	MCF-7	breast:
2	chr5:98684216..98686080-chr5:98701796..98703899,2	MCF-7	breast:

Extended variants
information (count: 178 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs553387763	chr5:98702067-98702068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571837696	chr5:98702080-98702081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182283856	chr5:98702102-98702103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376780155	chr5:98702112-98702113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138540062	chr5:98702121-98702122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573305923	chr5:98702125-98702126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540422685	chr5:98702152-98702153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561954037	chr5:98702168-98702169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185808682	chr5:98702176-98702177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528809757	chr5:98702177-98702178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555044787	chr5:98702187-98702188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573937065	chr5:98702192-98702193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59163978	chr5:98702227-98702228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150999433	chr5:98702233-98702234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544500000	chr5:98702265-98702266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559368629	chr5:98702266-98702267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563322665	chr5:98702293-98702294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79574089	chr5:98702337-98702338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551805983	chr5:98702374-98702375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530528506	chr5:98702400-98702401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182552590	chr5:98702408-98702409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532091431	chr5:98702423-98702424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560985828	chr5:98702457-98702458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528053448	chr5:98702473-98702474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369825844	chr5:98702533-98702534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546541247	chr5:98702579-98702580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571868907	chr5:98702589-98702590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539294366	chr5:98702691-98702692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373253841	chr5:98702722-98702723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562869234	chr5:98702724-98702725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551206126	chr5:98702730-98702731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188750167	chr5:98702734-98702735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191397953	chr5:98702759-98702760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184095269	chr5:98702792-98702793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188747010	chr5:98702801-98702802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573226026	chr5:98702802-98702803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533953118	chr5:98702854-98702855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113869897	chr5:98702886-98702887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530411329	chr5:98702937-98702938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2461978	chr5:98702938-98702939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs577860416	chr5:98702942-98702943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544860091	chr5:98702958-98702959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563182746	chr5:98702986-98702987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369388151	chr5:98702987-98702988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575091523	chr5:98703030-98703031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191476371	chr5:98703032-98703033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183567113	chr5:98703041-98703042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565541947	chr5:98703054-98703055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546282785	chr5:98703176-98703177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564858471	chr5:98703203-98703204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98700400-98705400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:98704400-98706200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:98704600-98706200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:98704600-98706400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:98704600-98706400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:98705000-98705600	Enhancers	Fetal Brain Male	brain
7	chr5:98705400-98706600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:98705600-98706000	Enhancers	Brain Germinal Matrix	brain
9	chr5:98710800-98711400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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