Variant report

Variant	nsv1017687
Chromosome Location	chr5:106227452-106240564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 312 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:312 , 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	rs10464030	chr5:106230234-106230235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569954316	chr5:106230274-106230275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535648487	chr5:106230286-106230287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149619549	chr5:106230293-106230294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566369497	chr5:106230296-106230297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534971607	chr5:106230303-106230304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557756079	chr5:106230322-106230323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577543689	chr5:106230374-106230375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115618621	chr5:106230383-106230384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111863694	chr5:106230391-106230392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573733749	chr5:106230404-106230405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542853645	chr5:106230416-106230417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73204111	chr5:106230424-106230425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528411274	chr5:106230462-106230463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59631134	chr5:106230474-106230475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555741757	chr5:106230477-106230478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564540223	chr5:106230499-106230500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533149534	chr5:106230510-106230511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549907004	chr5:106230513-106230514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569816169	chr5:106230561-106230562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529305355	chr5:106230576-106230577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549566891	chr5:106230603-106230604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76453250	chr5:106230662-106230663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535356739	chr5:106230696-106230697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375231284	chr5:106230698-106230699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56852424	chr5:106230699-106230700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575907961	chr5:106230713-106230714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71224899	chr5:106230724-106230725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546136135	chr5:106230742-106230743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558150887	chr5:106230756-106230757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368231944	chr5:106230768-106230769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189322765	chr5:106230783-106230784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180820998	chr5:106230829-106230830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556957324	chr5:106230857-106230858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573796262	chr5:106230868-106230869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534954104	chr5:106230869-106230870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553163571	chr5:106230876-106230877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61080231	chr5:106230879-106230880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1580831	chr5:106230898-106230899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185569834	chr5:106230925-106230926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148751436	chr5:106230930-106230931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530668896	chr5:106230955-106230956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1580832	chr5:106231013-106231014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572800188	chr5:106231032-106231033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529367803	chr5:106231039-106231040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549185986	chr5:106231109-106231110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559930770	chr5:106231138-106231139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142265453	chr5:106231147-106231148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368146039	chr5:106231167-106231168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188420761	chr5:106231177-106231178	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106230200-106231400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:106230200-106231400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:106230600-106231400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:106230800-106231200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:106231400-106233400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:106233400-106234400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:106240000-106240800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:106240000-106241000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:106240200-106241000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr5:106240200-106241200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:106240200-106241400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:106240400-106240800	Active TSS	H9 Cell Line	embryonic stem cell

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