Variant report

Variant	nsv599296
Chromosome Location	chr5:105993785-106016464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 347 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:347 , 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	rs10041720	chr5:105993785-105993786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567325064	chr5:105993817-105993818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536216422	chr5:105993856-105993857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546703258	chr5:105993892-105993893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372129352	chr5:105993953-105993954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183981682	chr5:105993967-105993968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559150801	chr5:105993976-105993977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115270750	chr5:105993978-105993979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369937842	chr5:105993981-105993982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567853139	chr5:105994033-105994034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186842659	chr5:105994043-105994044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555257385	chr5:105994089-105994090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574580697	chr5:105994113-105994114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77304304	chr5:105994141-105994142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541879517	chr5:105994155-105994156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540202662	chr5:105994158-105994159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559878872	chr5:105994171-105994172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139074608	chr5:105994231-105994232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149489701	chr5:105994248-105994249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563635639	chr5:105994310-105994311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531363656	chr5:105994389-105994390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543794414	chr5:105994398-105994399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62377667	chr5:105994420-105994421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1437644	chr5:105994460-105994461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527564480	chr5:105994485-105994486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546999330	chr5:105994532-105994533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143860842	chr5:105994548-105994549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565170737	chr5:105994557-105994558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539161737	chr5:105994561-105994562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552346880	chr5:105994569-105994570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569440821	chr5:105994590-105994591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541655815	chr5:105994817-105994818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561522660	chr5:105994841-105994842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs58638957	chr5:105994880-105994881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184216220	chr5:105994894-105994895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146892037	chr5:105994911-105994912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57016606	chr5:105994996-105994997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552664660	chr5:105995050-105995051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569341894	chr5:105995066-105995067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139758834	chr5:105995092-105995093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190074155	chr5:105995176-105995177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568668708	chr5:105995197-105995198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534539762	chr5:105995243-105995244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193231864	chr5:105995280-105995281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536307358	chr5:105995348-105995349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1347679	chr5:105995364-105995365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs185678329	chr5:105995401-105995402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1816640	chr5:105995424-105995425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575759324	chr5:105995435-105995436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376497207	chr5:105995481-105995482	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105993600-105994000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:105993600-105994600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:105994800-105995200	Enhancers	HUVEC	blood vessel
4	chr5:105995000-105995800	Enhancers	Adipose Nuclei	Adipose
5	chr5:105995600-105997000	Enhancers	Fetal Lung	lung
6	chr5:105995800-105997400	Weak transcription	Adipose Nuclei	Adipose
7	chr5:105996600-105997200	Enhancers	Ovary	ovary
8	chr5:105997000-105997400	Weak transcription	Fetal Lung	lung
9	chr5:105997400-105997800	Enhancers	Adipose Nuclei	Adipose
10	chr5:105997400-105998200	Enhancers	Fetal Lung	lung
11	chr5:106011400-106011600	Enhancers	Fetal Lung	lung
12	chr5:106011600-106016200	Weak transcription	Fetal Lung	lung
13	chr5:106015800-106016000	Enhancers	Ovary	ovary
14	chr5:106015800-106016400	Active TSS	Adipose Nuclei	Adipose
15	chr5:106016000-106016200	Active TSS	Muscle Satellite Cultured Cells	--
16	chr5:106016000-106016200	Active TSS	GM12878-XiMat	blood
17	chr5:106016000-106016200	Enhancers	HUVEC	blood vessel
18	chr5:106016000-106016400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:106016000-106016400	Active TSS	Primary hematopoietic stem cells	blood
20	chr5:106016000-106016400	Active TSS	Hela-S3	cervix
21	chr5:106016000-106016600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:106016000-106016600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:106016000-106016600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:106016000-106016600	Active TSS	Aorta	Aorta
25	chr5:106016000-106016600	Active TSS	Fetal Stomach	stomach
26	chr5:106016000-106016600	Active TSS	Ovary	ovary
27	chr5:106016000-106016600	Active TSS	A549	lung
28	chr5:106016200-106016600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:106016200-106016600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:106016200-106016600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr5:106016200-106016600	Active TSS	Fetal Lung	lung
32	chr5:106016200-106016600	Flanking Active TSS	GM12878-XiMat	blood
33	chr5:106016200-106016600	Flanking Active TSS	HUVEC	blood vessel
34	chr5:106016200-106016600	Active TSS	Osteobl	bone
35	chr5:106016200-106017200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:106016400-106016600	Flanking Active TSS	Adipose Nuclei	Adipose

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