Variant report

Variant	nsv517607
Chromosome Location	chr8:105832227-105841237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105836005..105838435-chr8:105839840..105842082,2	K562	blood:
2	chr8:105839051..105841998-chr8:105848629..105851497,2	K562	blood:
3	chr8:105830455..105832355-chr8:105833359..105835667,2	K562	blood:
4	chr8:105836005..105838435-chr8:105839840..105842082,2	K562	blood:
5	chr8:105830455..105832355-chr8:105833359..105835667,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371923908	chr8:105840405-105840406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193119200	chr8:105840442-105840443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139584207	chr8:105840463-105840464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564347437	chr8:105840546-105840547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9297353	chr8:105840583-105840584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543746197	chr8:105840601-105840602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185133993	chr8:105840606-105840607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12675629	chr8:105840627-105840628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149295382	chr8:105840659-105840660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559442252	chr8:105840660-105840661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570846746	chr8:105840678-105840679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144618921	chr8:105840805-105840806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148469852	chr8:105840809-105840810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569534083	chr8:105840821-105840822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537078221	chr8:105840834-105840835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549004467	chr8:105840844-105840845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567264985	chr8:105840853-105840854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58140377	chr8:105840856-105840857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534470889	chr8:105840919-105840920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552754642	chr8:105840989-105840990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572181489	chr8:105841009-105841010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571515931	chr8:105841087-105841088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144001085	chr8:105841114-105841115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576352381	chr8:105841188-105841189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543836879	chr8:105841202-105841203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146413391	chr8:105841218-105841219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533754820	chr8:105841225-105841226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13276884	chr8:105841237-105841238	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105840400-105840600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:105840400-105841200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:105840600-105841400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:105841000-105841200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:105841000-105841200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:105841000-105841200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:105841200-105841400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:105841200-105842200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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