Variant report

Variant	nsv396169
Chromosome Location	chr8:95222483-95223248
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	chr8:95217720..95220608-chr8:95221827..95224129,2	MCF-7	breast:
2	chr8:95221810..95224176-chr8:95226339..95228964,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78476248	chr8:95222483-95222484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75300194	chr8:95222484-95222485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73266294	chr8:95222528-95222529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144280517	chr8:95222539-95222540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531529666	chr8:95222540-95222541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189915014	chr8:95222548-95222549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117174844	chr8:95222581-95222582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527806366	chr8:95222634-95222635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547736935	chr8:95222655-95222656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371994574	chr8:95222670-95222671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536502485	chr8:95222739-95222740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146619752	chr8:95222756-95222757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546751426	chr8:95222792-95222793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570055168	chr8:95222836-95222837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35529874	chr8:95222837-95222838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117932471	chr8:95222851-95222852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558913339	chr8:95222896-95222897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577637646	chr8:95222903-95222904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183320094	chr8:95222953-95222954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529540981	chr8:95222974-95222975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35518203	chr8:95222982-95222983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573680665	chr8:95222986-95222987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369780865	chr8:95223012-95223013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373452786	chr8:95223041-95223042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375629684	chr8:95223088-95223089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549295673	chr8:95223094-95223095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11777372	chr8:95223099-95223100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189172227	chr8:95223132-95223133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572786536	chr8:95223144-95223145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Acute lymphoblastic leukemia	18458336	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
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95219800-95224200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:95219800-95224400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:95220000-95224400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:95220200-95224200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr8:95220200-95224200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:95220200-95224400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:95220800-95222800	Enhancers	Fetal Intestine Small	intestine
8	chr8:95220800-95230800	Weak transcription	Small Intestine	intestine
9	chr8:95221800-95224200	Weak transcription	A549	lung
10	chr8:95222000-95224400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:95222000-95229600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:95222000-95230000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:95222800-95224000	Weak transcription	Fetal Intestine Small	intestine

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