Variant report

Variant	nsv964786
Chromosome Location	chr5:97305536-97310782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542515551	chr5:97307835-97307836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533747494	chr5:97307849-97307850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114809591	chr5:97307904-97307905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73772518	chr5:97307950-97307951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148878919	chr5:97307974-97307975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113836880	chr5:97308001-97308002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374270580	chr5:97308002-97308003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56041625	chr5:97308009-97308010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114355017	chr5:97308029-97308030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550499405	chr5:97308088-97308089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76727938	chr5:97308090-97308091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367667316	chr5:97308094-97308095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576548967	chr5:97308125-97308126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11959302	chr5:97308232-97308233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550739684	chr5:97308242-97308243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569437160	chr5:97308281-97308282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555967994	chr5:97308328-97308329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6557022	chr5:97308351-97308352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150572464	chr5:97308358-97308359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372893328	chr5:97308372-97308373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139560060	chr5:97308376-97308377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534260186	chr5:97308383-97308384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7735809	chr5:97310604-97310605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541869765	chr5:97310651-97310652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559994528	chr5:97310654-97310655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35381585	chr5:97310690-97310691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527858154	chr5:97310771-97310772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97307800-97308400	Enhancers	Duodenum Mucosa	Duodenum
2	chr5:97310600-97321800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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