Variant report

Variant	nsv525692
Chromosome Location	chr8:131866339-131888262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 446 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568413123	chr8:131867451-131867452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537636665	chr8:131867453-131867454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555721225	chr8:131867479-131867480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574269943	chr8:131867491-131867492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534986462	chr8:131867515-131867516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187496719	chr8:131867522-131867523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55662702	chr8:131867577-131867578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112425947	chr8:131867601-131867602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557006270	chr8:131867610-131867611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192950899	chr8:131867664-131867665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116519193	chr8:131867700-131867701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144220564	chr8:131867711-131867712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10106144	chr8:131867733-131867734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368883069	chr8:131867780-131867781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567022455	chr8:131867812-131867813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147322221	chr8:131867814-131867815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559754519	chr8:131867863-131867864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533341955	chr8:131867882-131867883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571294713	chr8:131867883-131867884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551833090	chr8:131867884-131867885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570122706	chr8:131867906-131867907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184268200	chr8:131867936-131867937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534686096	chr8:131867938-131867939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549505561	chr8:131867939-131867940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533539824	chr8:131867984-131867985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567770258	chr8:131867989-131867990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183264641	chr8:131878024-131878025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370251716	chr8:131878053-131878054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185397798	chr8:131878098-131878099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145686775	chr8:131878227-131878228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73344576	chr8:131878228-131878229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189984556	chr8:131878238-131878239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534318440	chr8:131878251-131878252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558853265	chr8:131878257-131878258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3891528	chr8:131878283-131878284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577343901	chr8:131878327-131878328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531838414	chr8:131878410-131878411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544512651	chr8:131878447-131878448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7461848	chr8:131878480-131878481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552616711	chr8:131878493-131878494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143589518	chr8:131878494-131878495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182808825	chr8:131878529-131878530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527362057	chr8:131878546-131878547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552229282	chr8:131878557-131878558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10600050	chr8:131878581-131878582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376197143	chr8:131878600-131878601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531524867	chr8:131878602-131878603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377707338	chr8:131878604-131878605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188166753	chr8:131878777-131878778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567970194	chr8:131878858-131878859	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
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
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	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
Acute myeloid leukemia	20729466	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
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
Endometrioid adenocarcinoma	16974079	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastric cancer	16891809	CNVD
Colorectal cancer	19455253	CNVD
Pregnancies with abnormal ultrasound findings	21110858	CNVD
Breast cancer	19181860	CNVD
Brain cancer	19584924	CNVD
Medulloblastoma	19584924	CNVD
Follicular lymphoma	17699855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131867400-131867600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:131867600-131868000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:131878000-131879200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:131878000-131879600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:131878600-131879600	Enhancers	NHDF-Ad	bronchial
6	chr8:131879600-131892400	Weak transcription	NHDF-Ad	bronchial

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