Variant report

Variant	nsv524773
Chromosome Location	chr5:100264350-100309166
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	chr5:100263313..100266095-chr5:100272609..100274168,2	K562	blood:
2	chr5:100263313..100266095-chr5:100272609..100274168,2	K562	blood:

Extended variants
information (count: 695 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546851946	chr5:100270410-100270411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs571890887	chr5:100270411-100270412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538887729	chr5:100270419-100270420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs557526071	chr5:100270454-100270455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs192228195	chr5:100270461-100270462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536311295	chr5:100270477-100270478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs554608032	chr5:100270561-100270562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184756425	chr5:100270582-100270583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs56752243	chr5:100270599-100270600	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs575988647	chr5:100270619-100270620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs189864028	chr5:100270657-100270658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577046984	chr5:100270728-100270729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs544126100	chr5:100270734-100270735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs562696101	chr5:100270745-100270746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575661658	chr5:100270776-100270777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542668065	chr5:100270804-100270805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs147128011	chr5:100270810-100270811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534601672	chr5:100270825-100270826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs528498534	chr5:100270846-100270847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs546565913	chr5:100270886-100270887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs552839700	chr5:100270955-100270956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532830651	chr5:100270958-100270959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550902040	chr5:100270962-100270963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568137660	chr5:100270988-100270989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569385319	chr5:100271021-100271022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140320179	chr5:100271048-100271049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs548272493	chr5:100271053-100271054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77340867	chr5:100271055-100271056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs566557111	chr5:100271057-100271058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs10478648	chr5:100271120-100271121	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs4703133	chr5:100271134-100271135	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs57030195	chr5:100271167-100271168	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538105762	chr5:100271178-100271179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs146202139	chr5:100271251-100271252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs575186069	chr5:100271258-100271259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs545645750	chr5:100271259-100271260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557739151	chr5:100271277-100271278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs55861847	chr5:100271326-100271327	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs561439197	chr5:100271327-100271328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs540615614	chr5:100271329-100271330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561072249	chr5:100271341-100271342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs572995133	chr5:100271370-100271371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200893456	chr5:100271386-100271387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs180728385	chr5:100271405-100271406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184548086	chr5:100271408-100271409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532697318	chr5:100271409-100271410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs189358040	chr5:100271411-100271412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs562956237	chr5:100271428-100271429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113736992	chr5:100271438-100271439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs186549084	chr5:100271489-100271490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100270400-100276000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:100275400-100275800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:100276000-100276600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:100276600-100277200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:100277200-100282800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:100282800-100283600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:100289000-100289400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr5:100304000-100305200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:100305200-100305400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:100305400-100305600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:100305600-100306200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:100306200-100306800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:100306400-100307200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:100306600-100307200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:100306800-100307400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:100307400-100309200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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