Variant report

Variant	nsv972598
Chromosome Location	chr8:114168453-114177381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189764229	chr8:114168467-114168468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575809127	chr8:114168487-114168488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182421738	chr8:114168500-114168501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572201410	chr8:114168521-114168522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541068205	chr8:114168573-114168574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564062255	chr8:114168616-114168617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533096359	chr8:114168690-114168691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368466420	chr8:114168711-114168712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187756356	chr8:114168721-114168722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537892173	chr8:114168731-114168732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548451929	chr8:114168752-114168753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191119691	chr8:114168767-114168768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57236500	chr8:114168771-114168772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547425951	chr8:114168811-114168812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570496677	chr8:114168857-114168858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111703857	chr8:114168902-114168903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556258863	chr8:114168909-114168910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139522526	chr8:114168913-114168914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201857975	chr8:114168961-114168962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61703003	chr8:114168962-114168963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142967215	chr8:114168969-114168970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560700190	chr8:114168977-114168978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200924287	chr8:114168981-114168982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201926502	chr8:114168989-114168990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112848054	chr8:114169004-114169005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143875565	chr8:114169006-114169007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57751964	chr8:114169007-114169008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71281203	chr8:114169009-114169010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113608405	chr8:114169025-114169026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200946208	chr8:114169028-114169029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555268612	chr8:114169034-114169035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201805496	chr8:114169036-114169037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572346972	chr8:114169068-114169069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144547955	chr8:114169116-114169117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62519803	chr8:114169157-114169158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146117834	chr8:114169163-114169164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72337292	chr8:114169164-114169165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544653369	chr8:114169165-114169166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149258658	chr8:114169166-114169167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4629913	chr8:114169181-114169182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs58581247	chr8:114169185-114169186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200107411	chr8:114169187-114169188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529447772	chr8:114169197-114169198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201263494	chr8:114169266-114169267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60615527	chr8:114169268-114169269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs202151308	chr8:114169269-114169270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200412147	chr8:114169270-114169271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201229012	chr8:114169273-114169274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201867519	chr8:114169276-114169277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543410367	chr8:114169290-114169291	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114168400-114170600	Enhancers	Dnd41	blood
2	chr8:114176000-114178200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:114176800-114177400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:114177000-114177400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:114177000-114177400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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