Variant report

Variant	nsv1029139
Chromosome Location	chr8:51003318-51032943
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	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:

Extended variants
information (count: 1189 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1189 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138659486	chr8:51003358-51003359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs542628735	chr8:51003377-51003378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs189249005	chr8:51003386-51003387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112926502	chr8:51003397-51003398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141858548	chr8:51003400-51003401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563287829	chr8:51003421-51003422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564999295	chr8:51003458-51003459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80033975	chr8:51003459-51003460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182035917	chr8:51003464-51003465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10504095	chr8:51003568-51003569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529968237	chr8:51003581-51003582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548488882	chr8:51003611-51003612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542285605	chr8:51003648-51003649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183601634	chr8:51003679-51003680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200168329	chr8:51003723-51003724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559537042	chr8:51003742-51003743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528495252	chr8:51003764-51003765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146258354	chr8:51003776-51003777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201448243	chr8:51003779-51003780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188203037	chr8:51003788-51003789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539227586	chr8:51003790-51003791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557620223	chr8:51003821-51003822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181166135	chr8:51003862-51003863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186393214	chr8:51003865-51003866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570256780	chr8:51003888-51003889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191552762	chr8:51003893-51003894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572705881	chr8:51003895-51003896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540224533	chr8:51003933-51003934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181627458	chr8:51003949-51003950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537133313	chr8:51003994-51003995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576569295	chr8:51004000-51004001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543983013	chr8:51004016-51004017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113942118	chr8:51004027-51004028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187156802	chr8:51004110-51004111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529857024	chr8:51004128-51004129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545285116	chr8:51004145-51004146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559049482	chr8:51004159-51004160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375780992	chr8:51004207-51004208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369287883	chr8:51004220-51004221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571891220	chr8:51004229-51004230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531225598	chr8:51004250-51004251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs203611	chr8:51004266-51004267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs567645590	chr8:51004280-51004281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190992585	chr8:51004291-51004292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547013842	chr8:51004317-51004318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565361205	chr8:51004393-51004394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570857029	chr8:51004400-51004401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532680658	chr8:51004420-51004421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551115695	chr8:51004450-51004451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139537797	chr8:51004469-51004470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51003200-51003400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51003400-51017400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:51017400-51018400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:51018400-51039600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:51027800-51028600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:51028200-51028600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:51028600-51030600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr8:51029400-51030200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:51030200-51031000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:51031000-51031200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:51031000-51031600	Enhancers	Osteobl	bone
12	chr8:51031400-51034800	Weak transcription	Brain Germinal Matrix	brain
13	chr8:51031600-51038800	Weak transcription	Osteobl	bone
14	chr8:51032200-51046600	Weak transcription	Fetal Brain Male	brain

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