Variant report

Variant	nsv10731
Chromosome Location	chr5:99511017-99520933
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	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:
2	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:

Extended variants
information (count: 333 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183447173	chr5:99511018-99511019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553268391	chr5:99511020-99511021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539334938	chr5:99511030-99511031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544993527	chr5:99511133-99511134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188852135	chr5:99511169-99511170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7730800	chr5:99511172-99511173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs79368971	chr5:99511191-99511192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143027469	chr5:99511232-99511233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528315163	chr5:99511238-99511239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11743886	chr5:99511250-99511251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546780902	chr5:99511260-99511261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73150997	chr5:99511272-99511273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75807051	chr5:99511285-99511286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143405555	chr5:99511293-99511294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114436699	chr5:99511338-99511339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191147871	chr5:99511340-99511341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115419881	chr5:99511370-99511371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182802390	chr5:99511409-99511410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373567364	chr5:99511422-99511423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534900220	chr5:99511433-99511434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553104784	chr5:99511444-99511445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575691644	chr5:99511477-99511478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73150999	chr5:99511486-99511487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545370801	chr5:99511488-99511489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556952745	chr5:99511494-99511495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115914895	chr5:99511509-99511510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73151000	chr5:99511539-99511540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560979343	chr5:99511548-99511549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186704728	chr5:99511571-99511572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75736380	chr5:99511618-99511619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12653469	chr5:99511623-99511624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532477329	chr5:99511640-99511641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148384569	chr5:99511662-99511663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62387064	chr5:99511681-99511682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141407991	chr5:99511701-99511702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150836209	chr5:99511715-99511716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567424997	chr5:99511771-99511772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116014623	chr5:99511773-99511774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73151001	chr5:99511788-99511789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571736232	chr5:99511805-99511806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539349434	chr5:99511840-99511841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78060323	chr5:99511842-99511843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112011331	chr5:99511851-99511852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112338289	chr5:99511877-99511878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191515574	chr5:99511903-99511904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184752531	chr5:99511932-99511933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80018265	chr5:99511936-99511937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7733285	chr5:99511963-99511964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114098550	chr5:99512002-99512003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs66902848	chr5:99512037-99512038	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99510600-99512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:99510800-99511800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:99510800-99512000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:99512200-99517400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:99517600-99517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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