Variant report

Variant	nsv527460
Chromosome Location	chr5:105635825-105663646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 362 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189371660	chr5:105639005-105639006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7446410	chr5:105639018-105639019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181189742	chr5:105639058-105639059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148322795	chr5:105639064-105639065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13180657	chr5:105639091-105639092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13180658	chr5:105639094-105639095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558722882	chr5:105639190-105639191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575405495	chr5:105639240-105639241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185842135	chr5:105639295-105639296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75561644	chr5:105639312-105639313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574059073	chr5:105639409-105639410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543076658	chr5:105639452-105639453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528159755	chr5:105639479-105639480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546704667	chr5:105639513-105639514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576337581	chr5:105639528-105639529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190324004	chr5:105639533-105639534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545225074	chr5:105639536-105639537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs5002335	chr5:105639542-105639543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs531083884	chr5:105639559-105639560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150818930	chr5:105639652-105639653	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs567655363	chr5:105639732-105639733	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs6863061	chr5:105639767-105639768	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs546238920	chr5:105639769-105639770	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566401063	chr5:105639771-105639772	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs538733057	chr5:105639859-105639860	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550906060	chr5:105639888-105639889	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558430511	chr5:105639949-105639950	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113096125	chr5:105639970-105639971	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs181440796	chr5:105639985-105639986	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs538065361	chr5:105640044-105640045	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs370117907	chr5:105640045-105640046	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs557346467	chr5:105640052-105640053	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs77806475	chr5:105640106-105640107	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs574824548	chr5:105640139-105640140	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs186781012	chr5:105640148-105640149	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs572581335	chr5:105640149-105640150	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs142781965	chr5:105640156-105640157	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs146264849	chr5:105640217-105640218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192241688	chr5:105640225-105640226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376508643	chr5:105640263-105640264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114717949	chr5:105640295-105640296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563476403	chr5:105640308-105640309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575416569	chr5:105640328-105640329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544442695	chr5:105640346-105640347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58968712	chr5:105640356-105640357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs35597006	chr5:105640417-105640418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184084092	chr5:105640430-105640431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530328826	chr5:105640461-105640462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368505603	chr5:105640518-105640519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75415346	chr5:105640554-105640555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	17142309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105639000-105639600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:105639200-105639600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:105639600-105639800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:105639600-105640200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:105639800-105640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:105639800-105640000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:105639800-105640000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:105640000-105640200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:105640000-105640200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:105640000-105640200	Enhancers	Osteobl	bone
11	chr5:105640000-105641200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:105640000-105641400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:105640200-105641200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:105641200-105643200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:105641200-105643800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:105641400-105643400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:105641600-105642000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:105641600-105643200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:105641600-105643400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:105641800-105643400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:105642000-105642400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr5:105642000-105643200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:105642000-105643200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:105642400-105644000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:105642800-105643200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:105643000-105643200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:105643000-105643200	Enhancers	Pancreas	Pancrea
28	chr5:105646400-105647200	Enhancers	Ovary	ovary
29	chr5:105646600-105647400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:105646600-105648000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:105647000-105647400	Enhancers	Fetal Lung	lung
32	chr5:105647000-105647400	Enhancers	Osteobl	bone
33	chr5:105647400-105649800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:105647400-105649800	Weak transcription	Osteobl	bone
35	chr5:105648000-105648400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:105648200-105648600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:105648200-105648600	Enhancers	A549	lung
38	chr5:105648400-105648600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:105648600-105649800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:105648600-105650000	Weak transcription	A549	lung
41	chr5:105649600-105650600	Enhancers	HUVEC	blood vessel
42	chr5:105649800-105650200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:105649800-105650200	Enhancers	Hela-S3	cervix
44	chr5:105649800-105650200	Enhancers	Osteobl	bone
45	chr5:105649800-105650400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:105649800-105650400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr5:105650000-105650200	Enhancers	A549	lung
48	chr5:105656800-105657200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr5:105657000-105657200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr5:105662600-105666000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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