Variant report

Variant	nsv1026429
Chromosome Location	chr8:52464701-52496221
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	chr8:52469222..52472014-chr8:52475592..52477242,2	MCF-7	breast:
2	chr8:52469222..52472014-chr8:52475592..52477242,2	MCF-7	breast:

Extended variants
information (count: 946 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:946 , 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	rs368485608	chr8:52464704-52464705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185917721	chr8:52464709-52464710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533060838	chr8:52464718-52464719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372823315	chr8:52464723-52464724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113344789	chr8:52464753-52464754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13253651	chr8:52464760-52464761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191559508	chr8:52464795-52464796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374832083	chr8:52464834-52464835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13278441	chr8:52464855-52464856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182554456	chr8:52464880-52464881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568432163	chr8:52464897-52464898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535420777	chr8:52464917-52464918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543596381	chr8:52464932-52464933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187121960	chr8:52464933-52464934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117181886	chr8:52464943-52464944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539964213	chr8:52464954-52464955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191131930	chr8:52464965-52464966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565637967	chr8:52464969-52464970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139386549	chr8:52464977-52464978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372638501	chr8:52465019-52465020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370895912	chr8:52465028-52465029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564187563	chr8:52465039-52465040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566272135	chr8:52465092-52465093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551613093	chr8:52465095-52465096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182109978	chr8:52465153-52465154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573993739	chr8:52465157-52465158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111685684	chr8:52465158-52465159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149247579	chr8:52465161-52465162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532873955	chr8:52465168-52465169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187071760	chr8:52465188-52465189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537388862	chr8:52465226-52465227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78134759	chr8:52465233-52465234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531901881	chr8:52465249-52465250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550118571	chr8:52465250-52465251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13281656	chr8:52465263-52465264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529593478	chr8:52465279-52465280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371312665	chr8:52465301-52465302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547378930	chr8:52465329-52465330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189941933	chr8:52465359-52465360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373983164	chr8:52465363-52465364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35962374	chr8:52465369-52465370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377652945	chr8:52465372-52465373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77876895	chr8:52465489-52465490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553205326	chr8:52465494-52465495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539528692	chr8:52465515-52465516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35817180	chr8:52465571-52465572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10088914	chr8:52465587-52465588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570066886	chr8:52465592-52465593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144426005	chr8:52465613-52465614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117020714	chr8:52465643-52465644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52455800-52467200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:52460200-52475400	Weak transcription	Left Ventricle	heart
3	chr8:52465600-52467400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:52465600-52467600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:52465600-52467800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:52465800-52466200	Enhancers	Brain Germinal Matrix	brain
7	chr8:52465800-52466400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:52466200-52467200	Weak transcription	Brain Germinal Matrix	brain
9	chr8:52466400-52467400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:52466400-52467400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:52466600-52467000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:52467200-52467400	Enhancers	Brain Germinal Matrix	brain
13	chr8:52467200-52467800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:52467400-52468000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:52467600-52467800	Enhancers	Psoas Muscle	Psoas
16	chr8:52475400-52476000	ZNF genes & repeats	Left Ventricle	heart
17	chr8:52476000-52482800	Weak transcription	Left Ventricle	heart
18	chr8:52482000-52483400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:52482400-52482800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:52482400-52482800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:52482600-52483000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:52482600-52483000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:52482600-52483000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:52482600-52483000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:52482600-52483000	Enhancers	Right Atrium	heart
26	chr8:52482800-52483000	Enhancers	Left Ventricle	heart
27	chr8:52483400-52488400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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