Variant report

Variant	nsv1019197
Chromosome Location	chr8:113915139-113966976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:113948637..113951504-chr8:113954981..113956955,2	K562	blood:
2	chr8:113948637..113951504-chr8:113954981..113956955,2	K562	blood:

Extended variants
information (count: 235 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:235 , 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	rs375715524	chr8:113916240-113916241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528191609	chr8:113916260-113916261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113115060	chr8:113916265-113916266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113766809	chr8:113916266-113916267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3943402	chr8:113916270-113916271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200325584	chr8:113916278-113916279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550736916	chr8:113916311-113916312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561353652	chr8:113916317-113916318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371820876	chr8:113916318-113916319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547020647	chr8:113916324-113916325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144017943	chr8:113916392-113916393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532502697	chr8:113916405-113916406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552613488	chr8:113916410-113916411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569346724	chr8:113916445-113916446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547535636	chr8:113916448-113916449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554732498	chr8:113916449-113916450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567526853	chr8:113916450-113916451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375207026	chr8:113916458-113916459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117251813	chr8:113916476-113916477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369155304	chr8:113916480-113916481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140531832	chr8:113916482-113916483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144480030	chr8:113916483-113916484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550445366	chr8:113916517-113916518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189531087	chr8:113916521-113916522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555764652	chr8:113916578-113916579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575711958	chr8:113916622-113916623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551589458	chr8:113916633-113916634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1380139	chr8:113916647-113916648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182194770	chr8:113916654-113916655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113970908	chr8:113916663-113916664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147852962	chr8:113916688-113916689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34398660	chr8:113916740-113916741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140666567	chr8:113916782-113916783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4028265	chr8:113916798-113916799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569307096	chr8:113916804-113916805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186800134	chr8:113916810-113916811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142271927	chr8:113916824-113916825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568541798	chr8:113916845-113916846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34980102	chr8:113916851-113916852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151256737	chr8:113916858-113916859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553945153	chr8:113916861-113916862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140486649	chr8:113916883-113916884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150434932	chr8:113916932-113916933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555725878	chr8:113916955-113916956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191915953	chr8:113916966-113916967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571588424	chr8:113916977-113916978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541906822	chr8:113916990-113916991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555125064	chr8:113916996-113916997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374739324	chr8:113917000-113917001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572117437	chr8:113917007-113917008	Enhancers	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113916200-113920200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:113916800-113919600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:113917800-113919600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:113920400-113920800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:113920600-113921000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:113921800-113922200	Active TSS	A549	lung
7	chr8:113921800-113922200	Active TSS	Hela-S3	cervix
8	chr8:113950800-113951400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:113950800-113951400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:113950800-113951800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:113951000-113951600	Enhancers	HUES64 Cell Line	embryonic stem cell

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