Variant report

Variant	nsv521846
Chromosome Location	chr5:111432013-111444522
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	chr5:111427178..111429315-chr5:111442008..111443800,2	K562	blood:

Extended variants
information (count: 486 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs27409	chr5:111432013-111432014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542118818	chr5:111432030-111432031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534346047	chr5:111432040-111432041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562937734	chr5:111432064-111432065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555050914	chr5:111432068-111432069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180897108	chr5:111432102-111432103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114221006	chr5:111432138-111432139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7731519	chr5:111432144-111432145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557636129	chr5:111432155-111432156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575741462	chr5:111432164-111432165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539983102	chr5:111432191-111432192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7731670	chr5:111432212-111432213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185180594	chr5:111432259-111432260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374772202	chr5:111432271-111432272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145046770	chr5:111432278-111432279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561731046	chr5:111432291-111432292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574416720	chr5:111432313-111432314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141551534	chr5:111432366-111432367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147049189	chr5:111432368-111432369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530625422	chr5:111432379-111432380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371634433	chr5:111432420-111432421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375988249	chr5:111432422-111432423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564044248	chr5:111432439-111432440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs27983	chr5:111432481-111432482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546650232	chr5:111432496-111432497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191125760	chr5:111432528-111432529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs27413	chr5:111432540-111432541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551306196	chr5:111432555-111432556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527449207	chr5:111432597-111432598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs27412	chr5:111432675-111432676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539665713	chr5:111432677-111432678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558296490	chr5:111432704-111432705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375481802	chr5:111432711-111432712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528211251	chr5:111432723-111432724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183498600	chr5:111432741-111432742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147665674	chr5:111432762-111432763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186387284	chr5:111432794-111432795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573686027	chr5:111432806-111432807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544158129	chr5:111432810-111432811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28037	chr5:111432894-111432895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575463228	chr5:111432897-111432898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377407112	chr5:111432959-111432960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142472549	chr5:111432978-111432979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370159290	chr5:111433020-111433021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191747853	chr5:111433023-111433024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535701889	chr5:111433106-111433107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550941602	chr5:111433120-111433121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528242971	chr5:111433154-111433155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148356841	chr5:111433210-111433211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561727255	chr5:111433215-111433216	Enhancers Weak transcription	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
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111429200-111443400	Weak transcription	Aorta	Aorta
2	chr5:111429200-111456200	Weak transcription	Pancreas	Pancrea
3	chr5:111433200-111433400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:111433400-111433600	Enhancers	Osteobl	bone
5	chr5:111433400-111433800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:111433400-111434000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:111433400-111434000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:111433600-111434000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:111433600-111434000	Flanking Active TSS	Osteobl	bone
10	chr5:111433800-111434000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:111434000-111434200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:111434000-111434400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:111439000-111439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:111441000-111441200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:111442400-111443000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:111442800-111443000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr5:111443000-111444800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:111443200-111445800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:111443400-111444000	Enhancers	Aorta	Aorta

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