Variant report

Variant	nsv523932
Chromosome Location	chr8:106223874-106234642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:106233361..106235815-chr8:106246978..106248949,2	K562	blood:
2	chr8:106224825..106226678-chr8:106784530..106787162,2	K562	blood:
3	chr8:106224560..106226478-chr8:106234242..106236875,2	K562	blood:
4	chr8:106224560..106226478-chr8:106234242..106236875,2	K562	blood:

Extended variants
information (count: 187 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376193340	chr8:106224624-106224625	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs563305302	chr8:106224662-106224663	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531115199	chr8:106224668-106224669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs542924923	chr8:106224735-106224736	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs141694673	chr8:106224749-106224750	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528845104	chr8:106224759-106224760	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs185336014	chr8:106224760-106224761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550900815	chr8:106224772-106224773	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547146221	chr8:106224844-106224845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571301858	chr8:106224891-106224892	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150543843	chr8:106224956-106224957	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550603059	chr8:106224980-106224981	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139507669	chr8:106225034-106225035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536567641	chr8:106225053-106225054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553293213	chr8:106225073-106225074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149415073	chr8:106225117-106225118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573344566	chr8:106225141-106225142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs34653357	chr8:106225177-106225178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs375151997	chr8:106225186-106225187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs566737762	chr8:106225194-106225195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533794985	chr8:106225195-106225196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs189756429	chr8:106225209-106225210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs118052851	chr8:106225220-106225221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs182054236	chr8:106225244-106225245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs539333931	chr8:106225298-106225299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs185069349	chr8:106225300-106225301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556960316	chr8:106225338-106225339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575198763	chr8:106225401-106225402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542991411	chr8:106225407-106225408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541933068	chr8:106225521-106225522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369683275	chr8:106225529-106225530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116101339	chr8:106225607-106225608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573477148	chr8:106225622-106225623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555411575	chr8:106225626-106225627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540510595	chr8:106225633-106225634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576378747	chr8:106225674-106225675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532246491	chr8:106225719-106225720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575309859	chr8:106225723-106225724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550666791	chr8:106225772-106225773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192468318	chr8:106225782-106225783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529685428	chr8:106225793-106225794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183806686	chr8:106225841-106225842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566541915	chr8:106225870-106225871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373375990	chr8:106225887-106225888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188766962	chr8:106225977-106225978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146348384	chr8:106225983-106225984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545646772	chr8:106226004-106226005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570285616	chr8:106226022-106226023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538764849	chr8:106226024-106226025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557064731	chr8:106226037-106226038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106224600-106225000	Active TSS	Brain Cingulate Gyrus	brain
2	chr8:106225000-106225400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
3	chr8:106225400-106227200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:106227000-106227200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:106227000-106228000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:106227000-106228000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:106227200-106227600	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:106227200-106227600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr8:106227600-106228600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:106228600-106229000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:106228600-106229000	Active TSS	Psoas Muscle	Psoas

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