Variant report

Variant	nsv971253
Chromosome Location	chr8:111494027-111502841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138710805	chr8:111496865-111496866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539391885	chr8:111496869-111496870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534325825	chr8:111496929-111496930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547482730	chr8:111496960-111496961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373129853	chr8:111497001-111497002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113458834	chr8:111497036-111497037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570551471	chr8:111497037-111497038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4386953	chr8:111497055-111497056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539407726	chr8:111497062-111497063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558431331	chr8:111497085-111497086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575469256	chr8:111497093-111497094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537661002	chr8:111497125-111497126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10706793	chr8:111497164-111497165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368681063	chr8:111497234-111497235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574524925	chr8:111497244-111497245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540379763	chr8:111497245-111497246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142723864	chr8:111497268-111497269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560282408	chr8:111497294-111497295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576926412	chr8:111497351-111497352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146928630	chr8:111497371-111497372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575107860	chr8:111497415-111497416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562553899	chr8:111497423-111497424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193110438	chr8:111497433-111497434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148170235	chr8:111497468-111497469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562350560	chr8:111497469-111497470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527871156	chr8:111497473-111497474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141975406	chr8:111497488-111497489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111626107	chr8:111497564-111497565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544977605	chr8:111497581-111497582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563973362	chr8:111497585-111497586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564772620	chr8:111497603-111497604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527563862	chr8:111497610-111497611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549730819	chr8:111497611-111497612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185508804	chr8:111497618-111497619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538169575	chr8:111497661-111497662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547323914	chr8:111497665-111497666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554565598	chr8:111497676-111497677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58173160	chr8:111497681-111497682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372910858	chr8:111497732-111497733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533936557	chr8:111497734-111497735	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111496800-111497800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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