Variant report

Variant	nsv971307
Chromosome Location	chr8:48996181-48998139
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	chr8:48984328..48988098-chr8:48992508..48996504,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557667165	chr8:48996185-48996186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575944995	chr8:48996259-48996260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569081531	chr8:48996278-48996279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58816127	chr8:48996302-48996303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555548701	chr8:48996327-48996328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573608351	chr8:48996364-48996365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75293429	chr8:48996434-48996435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185031905	chr8:48996453-48996454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577889347	chr8:48996454-48996455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544929029	chr8:48996491-48996492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201154824	chr8:48996582-48996583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371109128	chr8:48996590-48996591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200435805	chr8:48996603-48996604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563225022	chr8:48996616-48996617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112772806	chr8:48996626-48996627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147338232	chr8:48996627-48996628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561434660	chr8:48996667-48996668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528546171	chr8:48996672-48996673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546997198	chr8:48996740-48996741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567280521	chr8:48996765-48996766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532537563	chr8:48996845-48996846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551336998	chr8:48996849-48996850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371481766	chr8:48996950-48996951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115547103	chr8:48996952-48996953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114376815	chr8:48996975-48996976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374447616	chr8:48997046-48997047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371909639	chr8:48997090-48997091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554824893	chr8:48997123-48997124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137893095	chr8:48997126-48997127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373616113	chr8:48997138-48997139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368633030	chr8:48997167-48997168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534390931	chr8:48997269-48997270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149466001	chr8:48997300-48997301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189876578	chr8:48997301-48997302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181082067	chr8:48997353-48997354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556880624	chr8:48997363-48997364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575147084	chr8:48997407-48997408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143939722	chr8:48997411-48997412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560629202	chr8:48997505-48997506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528269715	chr8:48997517-48997518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540408519	chr8:48997534-48997535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148630086	chr8:48997535-48997536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142119712	chr8:48997591-48997592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550947774	chr8:48997608-48997609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370861710	chr8:48997671-48997672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372737268	chr8:48997737-48997738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375118618	chr8:48997741-48997742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553271715	chr8:48997767-48997768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112079868	chr8:48997790-48997791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377104183	chr8:48997798-48997799	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
22q11 deletion syndrome	20357662	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48994400-48996200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:48995400-48996400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:48996200-48998800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:48997400-48997600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:48997400-48997600	Enhancers	NHDF-Ad	bronchial

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