Variant report

Variant	nsv972573
Chromosome Location	chr8:118221506-118227792
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	chr8:118222096..118223964-chr8:118223982..118226303,2	K562	blood:
2	chr8:118222096..118223964-chr8:118223982..118226303,2	K562	blood:

Extended variants
information (count: 236 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:236 , 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	rs138846017	chr8:118221597-118221598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142785076	chr8:118221605-118221606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181364539	chr8:118221608-118221609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540577040	chr8:118221634-118221635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537652791	chr8:118221638-118221639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186530234	chr8:118221742-118221743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16889504	chr8:118221807-118221808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11996123	chr8:118221845-118221846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562992309	chr8:118221880-118221881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533330273	chr8:118221888-118221889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573961187	chr8:118221906-118221907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143606328	chr8:118221973-118221974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2464575	chr8:118221982-118221983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564199891	chr8:118221996-118221997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2464574	chr8:118221999-118222000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546466762	chr8:118222055-118222056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563073838	chr8:118222079-118222080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150449955	chr8:118222091-118222092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11996210	chr8:118222130-118222131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190937600	chr8:118222132-118222133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547925337	chr8:118222134-118222135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550229515	chr8:118222143-118222144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114839782	chr8:118222182-118222183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180940527	chr8:118222188-118222189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371850093	chr8:118222196-118222197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558898789	chr8:118222264-118222265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35632260	chr8:118222267-118222268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557780637	chr8:118222284-118222285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34732306	chr8:118222286-118222287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573451093	chr8:118222316-118222317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534465667	chr8:118222354-118222355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2464573	chr8:118222398-118222399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs117590598	chr8:118222415-118222416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148058794	chr8:118222432-118222433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371801671	chr8:118222511-118222512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185124651	chr8:118222519-118222520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73319585	chr8:118222520-118222521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191121812	chr8:118222615-118222616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75170817	chr8:118222622-118222623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183266481	chr8:118222633-118222634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527691522	chr8:118222673-118222674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76094204	chr8:118222693-118222694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527798919	chr8:118222697-118222698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561666248	chr8:118222701-118222702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2466310	chr8:118222703-118222704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141435418	chr8:118222708-118222709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186233650	chr8:118222711-118222712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115821346	chr8:118222719-118222720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551198173	chr8:118222780-118222781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111718614	chr8:118222782-118222783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

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
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	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
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD
T-cell lymphomas	22341440	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118217600-118225600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:118225600-118227400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr8:118226000-118226200	Enhancers	Pancreas	Pancrea
4	chr8:118226800-118227000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:118227000-118228200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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