Variant report

Variant	nsv882457
Chromosome Location	chr5:99596369-99669656
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	chr5:98440068..98440810-chr5:99647288..99647935,2	MCF-7	breast:
2	chr5:98656230..98656989-chr5:99647221..99648200,3	MCF-7	breast:

Extended variants
information (count: 916 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537211988	chr5:99596854-99596855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114045966	chr5:99596883-99596884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564485353	chr5:99596886-99596887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10609539	chr5:99596920-99596921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199554098	chr5:99596921-99596922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1817394	chr5:99596926-99596927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535867259	chr5:99596966-99596967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56728498	chr5:99596978-99596979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187304913	chr5:99596983-99596984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536061669	chr5:99597011-99597012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558430812	chr5:99597034-99597035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576568619	chr5:99597035-99597036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543949029	chr5:99597047-99597048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555804973	chr5:99597072-99597073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574237276	chr5:99597086-99597087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183100169	chr5:99597106-99597107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558899463	chr5:99597113-99597114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554820024	chr5:99597191-99597192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187739173	chr5:99597254-99597255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201827140	chr5:99597276-99597277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114234913	chr5:99597294-99597295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192363215	chr5:99597298-99597299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183226247	chr5:99597347-99597348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187894475	chr5:99597379-99597380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567485249	chr5:99597424-99597425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576273014	chr5:99597427-99597428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151063134	chr5:99597433-99597434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528374457	chr5:99597457-99597458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547858249	chr5:99597458-99597459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566068958	chr5:99597465-99597466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10039103	chr5:99597476-99597477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539802607	chr5:99597486-99597487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370000104	chr5:99597487-99597488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370628929	chr5:99597497-99597498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2013122	chr5:99597529-99597530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559091752	chr5:99597533-99597534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192668558	chr5:99597549-99597550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543782858	chr5:99597591-99597592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559019323	chr5:99597596-99597597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184483223	chr5:99597603-99597604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574277294	chr5:99597624-99597625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541319017	chr5:99597627-99597628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553212974	chr5:99597660-99597661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79770848	chr5:99597674-99597675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544579662	chr5:99597704-99597705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59181522	chr5:99597743-99597744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530613211	chr5:99597771-99597772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542486658	chr5:99597834-99597835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561133851	chr5:99597882-99597883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528434880	chr5:99597915-99597916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99596800-99597600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:99597000-99597400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:99597600-99600200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:99599600-99599800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:99599800-99600600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:99600200-99600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:99600400-99600800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:99600600-99601600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:99600800-99602200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:99602200-99605800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:99604000-99605400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:99604200-99607200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:99604200-99607400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:99605400-99606000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:99605600-99605800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:99605600-99605800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:99605600-99605800	Enhancers	Fetal Lung	lung
18	chr5:99605600-99605800	Enhancers	HUVEC	blood vessel
19	chr5:99605800-99606000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:99605800-99606000	Enhancers	NH-A	brain
21	chr5:99605800-99606200	Flanking Active TSS	Fetal Lung	lung
22	chr5:99605800-99606400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr5:99605800-99606400	Flanking Active TSS	HUVEC	blood vessel
24	chr5:99605800-99606600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:99605800-99606600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:99605800-99606600	Enhancers	HSMMtube	muscle
27	chr5:99605800-99606600	Enhancers	NHEK	skin
28	chr5:99605800-99606800	Enhancers	Primary hematopoietic stem cells	blood
29	chr5:99605800-99606800	Enhancers	Fetal Brain Male	brain
30	chr5:99605800-99606800	Enhancers	Fetal Kidney	kidney
31	chr5:99606000-99606400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:99606000-99606400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:99606000-99606400	Flanking Active TSS	NH-A	brain
34	chr5:99606000-99606600	Enhancers	Brain Angular Gyrus	brain
35	chr5:99606000-99606800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:99606000-99606800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:99606000-99607600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:99606000-99607800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:99606200-99606600	Enhancers	Colon Smooth Muscle	Colon
40	chr5:99606200-99606800	Enhancers	Fetal Lung	lung
41	chr5:99606400-99606600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:99606400-99606600	Enhancers	NH-A	brain
43	chr5:99606400-99606800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:99606400-99607200	Enhancers	HUVEC	blood vessel
45	chr5:99606600-99606800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:99606600-99609200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:99606600-99609600	Weak transcription	NHEK	skin
48	chr5:99606800-99607400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:99606800-99609800	Weak transcription	Fetal Kidney	kidney
50	chr5:99606800-99610600	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links