Variant report

Variant	nsv599170
Chromosome Location	chr5:99606651-99656681
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: 542 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10515300	chr5:99606651-99606652	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550991877	chr5:99606668-99606669	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563144592	chr5:99606687-99606688	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10515301	chr5:99606693-99606694	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs548192855	chr5:99606716-99606717	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368162852	chr5:99606725-99606726	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112849975	chr5:99606729-99606730	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533646910	chr5:99606814-99606815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528304894	chr5:99606823-99606824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546534269	chr5:99606824-99606825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4279311	chr5:99606825-99606826	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4602592	chr5:99606849-99606850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574378070	chr5:99606898-99606899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191297951	chr5:99607000-99607001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76124568	chr5:99607009-99607010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184678150	chr5:99607010-99607011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190355312	chr5:99607018-99607019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370510491	chr5:99607071-99607072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182547750	chr5:99607108-99607109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73151532	chr5:99607142-99607143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565331929	chr5:99607148-99607149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143363212	chr5:99607150-99607151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185093768	chr5:99607152-99607153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201135215	chr5:99607167-99607168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113686586	chr5:99607233-99607234	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189124484	chr5:99607250-99607251	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530394171	chr5:99607262-99607263	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548253760	chr5:99607272-99607273	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529240386	chr5:99607287-99607288	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550989277	chr5:99607325-99607326	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559903251	chr5:99607340-99607341	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs794989	chr5:99607372-99607373	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552007938	chr5:99607378-99607379	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539589350	chr5:99607380-99607381	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570493344	chr5:99607396-99607397	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139561778	chr5:99607423-99607424	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60181636	chr5:99607432-99607433	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540657592	chr5:99607444-99607445	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537681433	chr5:99607449-99607450	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549546584	chr5:99607460-99607461	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568063135	chr5:99607466-99607467	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146736391	chr5:99607472-99607473	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553607681	chr5:99607498-99607499	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573157387	chr5:99607503-99607504	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181108555	chr5:99607585-99607586	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558796813	chr5:99607593-99607594	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148897111	chr5:99607600-99607601	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112603508	chr5:99607635-99607636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556791477	chr5:99607641-99607642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73776481	chr5:99607647-99607648	Enhancers Weak transcription	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99604200-99607200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:99604200-99607400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:99605800-99606800	Enhancers	Primary hematopoietic stem cells	blood
4	chr5:99605800-99606800	Enhancers	Fetal Brain Male	brain
5	chr5:99605800-99606800	Enhancers	Fetal Kidney	kidney
6	chr5:99606000-99606800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:99606000-99606800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:99606000-99607600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:99606000-99607800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:99606200-99606800	Enhancers	Fetal Lung	lung
11	chr5:99606400-99606800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:99606400-99607200	Enhancers	HUVEC	blood vessel
13	chr5:99606600-99606800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:99606600-99609200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:99606600-99609600	Weak transcription	NHEK	skin
16	chr5:99606800-99607400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:99606800-99609800	Weak transcription	Fetal Kidney	kidney
18	chr5:99606800-99610600	Weak transcription	Fetal Brain Male	brain
19	chr5:99607200-99607600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:99609200-99610400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:99609600-99610200	Enhancers	NHEK	skin
22	chr5:99610600-99611200	Enhancers	Fetal Brain Female	brain
23	chr5:99610600-99611400	Enhancers	Fetal Brain Male	brain
24	chr5:99611400-99612400	Weak transcription	Fetal Brain Male	brain
25	chr5:99612400-99613200	Enhancers	Fetal Brain Male	brain
26	chr5:99612600-99613200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:99634400-99634800	Enhancers	Dnd41	blood
28	chr5:99634400-99634800	Enhancers	HMEC	breast
29	chr5:99634400-99636200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr5:99634600-99635000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:99634600-99635000	Enhancers	NHEK	skin
32	chr5:99634600-99635600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:99637400-99637600	Enhancers	Brain Germinal Matrix	brain
34	chr5:99637600-99638200	Weak transcription	Brain Germinal Matrix	brain
35	chr5:99638200-99639000	Enhancers	Brain Germinal Matrix	brain
36	chr5:99639000-99639400	Weak transcription	Brain Germinal Matrix	brain
37	chr5:99639400-99640800	Enhancers	Brain Germinal Matrix	brain
38	chr5:99641400-99642400	Enhancers	HUVEC	blood vessel
39	chr5:99641600-99642200	Enhancers	NHEK	skin
40	chr5:99641800-99642200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:99649000-99649800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:99649200-99649800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr5:99649200-99650000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr5:99649200-99650000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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