Variant report

Variant	nsv982092
Chromosome Location	chr8:113435351-113440619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377407905	chr8:113435378-113435379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181846430	chr8:113435390-113435391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10505175	chr8:113435406-113435407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs535362811	chr8:113435407-113435408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139485708	chr8:113435498-113435499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560273598	chr8:113435543-113435544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564100250	chr8:113435565-113435566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186902983	chr8:113435586-113435587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552365357	chr8:113435610-113435611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554926395	chr8:113435619-113435620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190549917	chr8:113435683-113435684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531725767	chr8:113435720-113435721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554977724	chr8:113435767-113435768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182395833	chr8:113435893-113435894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77559199	chr8:113435913-113435914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534467201	chr8:113435940-113435941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547984714	chr8:113435941-113435942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114973324	chr8:113435986-113435987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539548055	chr8:113435995-113435996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186085389	chr8:113436005-113436006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569353561	chr8:113436027-113436028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535092645	chr8:113436095-113436096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79382427	chr8:113436108-113436109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189758223	chr8:113436128-113436129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540936043	chr8:113436148-113436149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145012564	chr8:113436174-113436175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147756307	chr8:113436176-113436177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372924643	chr8:113436186-113436187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182100716	chr8:113436190-113436191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562850879	chr8:113436211-113436212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142638430	chr8:113436226-113436227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185550764	chr8:113436228-113436229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112520421	chr8:113436232-113436233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528026534	chr8:113436236-113436237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574947883	chr8:113436282-113436283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368865167	chr8:113436283-113436284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571073635	chr8:113436304-113436305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373139370	chr8:113436333-113436334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531881232	chr8:113436383-113436384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13275968	chr8:113436387-113436388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs17640721	chr8:113436402-113436403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374077857	chr8:113436417-113436418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144881683	chr8:113436418-113436419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565311325	chr8:113436457-113436458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527693242	chr8:113436471-113436472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534962214	chr8:113436481-113436482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547356623	chr8:113436488-113436489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557756433	chr8:113436493-113436494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577826436	chr8:113436622-113436623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191328515	chr8:113436624-113436625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Glioblastoma multiforme	21080181	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113426800-113443600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:113434600-113435400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:113437600-113438000	Enhancers	HMEC	breast
4	chr8:113437600-113438000	Enhancers	NHEK	skin
5	chr8:113438000-113443200	Weak transcription	HMEC	breast

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