Variant report

Variant	nsv882459
Chromosome Location	chr5:99611807-99696831
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	chr5:98656230..98656989-chr5:99647221..99648200,3	MCF-7	breast:
2	chr5:98440068..98440810-chr5:99647288..99647935,2	MCF-7	breast:

Extended variants
information (count: 354 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs949677	chr5:99611807-99611808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369016355	chr5:99611848-99611849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565541264	chr5:99611853-99611854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532181917	chr5:99611912-99611913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550570467	chr5:99611928-99611929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569016582	chr5:99611962-99611963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536342009	chr5:99612004-99612005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142801912	chr5:99612017-99612018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548226593	chr5:99612037-99612038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566552080	chr5:99612038-99612039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146583719	chr5:99612053-99612054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558593181	chr5:99612069-99612070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1904145	chr5:99612096-99612097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542457089	chr5:99612132-99612133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75272760	chr5:99612139-99612140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191077722	chr5:99612186-99612187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556927839	chr5:99612277-99612278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182863554	chr5:99612282-99612283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372801237	chr5:99612302-99612303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186007491	chr5:99612305-99612306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116093654	chr5:99612328-99612329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527833506	chr5:99612347-99612348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573375686	chr5:99612369-99612370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540808744	chr5:99612390-99612391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376090640	chr5:99612391-99612392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190032644	chr5:99612400-99612401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73151542	chr5:99612431-99612432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs114412187	chr5:99612438-99612439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544263856	chr5:99612441-99612442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139128881	chr5:99612567-99612568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529666195	chr5:99612655-99612656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28377972	chr5:99612671-99612672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2546170	chr5:99612695-99612696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149933138	chr5:99612753-99612754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145089897	chr5:99612782-99612783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552346451	chr5:99612801-99612802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs324881	chr5:99612805-99612806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565117074	chr5:99612852-99612853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555995309	chr5:99612920-99612921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187452218	chr5:99612926-99612927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538058512	chr5:99612973-99612974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536616382	chr5:99612981-99612982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527710715	chr5:99612985-99612986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192714644	chr5:99612991-99612992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554802333	chr5:99613006-99613007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573268904	chr5:99613023-99613024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149122916	chr5:99613031-99613032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182749618	chr5:99613043-99613044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2617323	chr5:99613069-99613070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2617322	chr5:99613108-99613109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99611400-99612400	Weak transcription	Fetal Brain Male	brain
2	chr5:99612400-99613200	Enhancers	Fetal Brain Male	brain
3	chr5:99612600-99613200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:99634400-99634800	Enhancers	Dnd41	blood
5	chr5:99634400-99634800	Enhancers	HMEC	breast
6	chr5:99634400-99636200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:99634600-99635000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:99634600-99635000	Enhancers	NHEK	skin
9	chr5:99634600-99635600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:99637400-99637600	Enhancers	Brain Germinal Matrix	brain
11	chr5:99637600-99638200	Weak transcription	Brain Germinal Matrix	brain
12	chr5:99638200-99639000	Enhancers	Brain Germinal Matrix	brain
13	chr5:99639000-99639400	Weak transcription	Brain Germinal Matrix	brain
14	chr5:99639400-99640800	Enhancers	Brain Germinal Matrix	brain
15	chr5:99641400-99642400	Enhancers	HUVEC	blood vessel
16	chr5:99641600-99642200	Enhancers	NHEK	skin
17	chr5:99641800-99642200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:99649000-99649800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:99649200-99649800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:99649200-99650000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:99649200-99650000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:99687600-99688000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:99696400-99696600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links