Variant report

Variant	nsv518270
Chromosome Location	chr8:113440838-113450037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 214 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2123489	chr8:113440838-113440839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531400155	chr8:113440911-113440912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547934596	chr8:113440915-113440916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561056354	chr8:113440931-113440932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371705672	chr8:113440990-113440991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530104085	chr8:113441007-113441008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149856601	chr8:113441071-113441072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145852548	chr8:113441076-113441077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539351288	chr8:113441117-113441118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35018854	chr8:113441133-113441134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397806787	chr8:113441140-113441141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376645019	chr8:113441155-113441156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552893096	chr8:113441181-113441182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2167777	chr8:113441240-113441241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538453086	chr8:113441249-113441250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148566544	chr8:113441292-113441293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555169289	chr8:113441344-113441345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142913787	chr8:113441370-113441371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533631718	chr8:113441426-113441427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151073440	chr8:113441446-113441447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560579168	chr8:113441486-113441487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575221876	chr8:113441488-113441489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576754914	chr8:113441490-113441491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546126596	chr8:113441570-113441571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2883427	chr8:113441607-113441608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542611592	chr8:113441663-113441664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575891408	chr8:113441664-113441665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202229352	chr8:113441713-113441714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78275104	chr8:113441718-113441719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561516466	chr8:113441736-113441737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530238809	chr8:113441902-113441903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369445975	chr8:113441944-113441945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373693821	chr8:113441971-113441972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539275494	chr8:113441987-113441988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540354271	chr8:113442006-113442007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375526220	chr8:113442014-113442015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560572805	chr8:113442019-113442020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141296025	chr8:113442053-113442054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189211129	chr8:113442065-113442066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180939794	chr8:113442110-113442111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185008290	chr8:113442118-113442119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191336139	chr8:113442125-113442126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548829975	chr8:113442179-113442180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568546874	chr8:113442182-113442183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531818560	chr8:113442212-113442213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549979115	chr8:113442222-113442223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553584136	chr8:113442265-113442266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570481009	chr8:113442268-113442269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539056342	chr8:113442292-113442293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555705276	chr8:113442300-113442301	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:7 , 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	chr8:113438000-113443200	Weak transcription	HMEC	breast
3	chr8:113443200-113444800	Enhancers	HMEC	breast
4	chr8:113443600-113444600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:113447400-113447600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:113448000-113449000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:113449000-113449400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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