Variant report

Variant	nsv972534
Chromosome Location	chr8:115121455-115130776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182145167	chr8:115123449-115123450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184934093	chr8:115123465-115123466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191109410	chr8:115123467-115123468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554121761	chr8:115123476-115123477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183644000	chr8:115123555-115123556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7000905	chr8:115123578-115123579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117133782	chr8:115123597-115123598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202164149	chr8:115123667-115123668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10112615	chr8:115123679-115123680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535187488	chr8:115123867-115123868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145348319	chr8:115123900-115123901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560024194	chr8:115123928-115123929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6469506	chr8:115123937-115123938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540591333	chr8:115123973-115123974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141133174	chr8:115124038-115124039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80117320	chr8:115124056-115124057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76740204	chr8:115124076-115124077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562950042	chr8:115124136-115124137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544070867	chr8:115124150-115124151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550903268	chr8:115124270-115124271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531894115	chr8:115124296-115124297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548720886	chr8:115124369-115124370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562128074	chr8:115124371-115124372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150720894	chr8:115124396-115124397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570752012	chr8:115124475-115124476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533451248	chr8:115124488-115124489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547787969	chr8:115124540-115124541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570769051	chr8:115124549-115124550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539345778	chr8:115124566-115124567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565439169	chr8:115124582-115124583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550011303	chr8:115124616-115124617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs137958172	chr8:115124621-115124622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189084542	chr8:115124775-115124776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78741730	chr8:115124807-115124808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375529517	chr8:115124819-115124820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368535027	chr8:115124821-115124822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557458228	chr8:115124845-115124846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577524946	chr8:115124913-115124914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546670505	chr8:115124926-115124927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376090608	chr8:115124972-115124973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546181464	chr8:115124984-115124985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372439089	chr8:115124987-115124988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377014161	chr8:115124992-115124993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116536329	chr8:115125068-115125069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6992852	chr8:115125071-115125072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142503861	chr8:115125087-115125088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183139522	chr8:115125120-115125121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527780199	chr8:115125124-115125125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547813516	chr8:115125144-115125145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145995976	chr8:115125201-115125202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115123400-115124200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:115123600-115124000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:115124000-115124400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:115124400-115124600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:115124600-115126600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:115125400-115125800	Active TSS	A549	lung

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