Variant report

Variant	nsv528805
Chromosome Location	chr5:112641650-112650751
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	chr5:112637840..112639791-chr5:112646688..112648404,2	MCF-7	breast:
2	chr4:32159312..32160248-chr5:112648833..112649616,2	K562	blood:

Extended variants
information (count: 341 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:341 , 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	rs11241198	chr5:112641650-112641651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145008080	chr5:112641685-112641686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577853883	chr5:112641709-112641710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545199371	chr5:112641710-112641711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560045159	chr5:112641721-112641722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528610378	chr5:112641723-112641724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186267310	chr5:112641785-112641786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551866423	chr5:112641840-112641841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201904191	chr5:112641843-112641844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138793065	chr5:112641852-112641853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569611914	chr5:112641933-112641934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116404060	chr5:112641949-112641950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55834943	chr5:112641956-112641957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566922270	chr5:112641993-112641994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376033774	chr5:112642048-112642049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555075610	chr5:112642053-112642054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573376936	chr5:112642087-112642088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537490944	chr5:112642124-112642125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555701420	chr5:112642147-112642148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577873666	chr5:112642168-112642169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544948314	chr5:112642210-112642211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370077347	chr5:112642211-112642212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560312423	chr5:112642249-112642250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13164326	chr5:112642327-112642328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542822962	chr5:112642340-112642341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562211667	chr5:112642348-112642349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112835125	chr5:112642390-112642391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544626306	chr5:112642484-112642485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572734816	chr5:112642518-112642519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562693050	chr5:112642589-112642590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535262223	chr5:112642625-112642626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533699136	chr5:112642652-112642653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141472257	chr5:112642665-112642666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567135531	chr5:112642694-112642695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150838385	chr5:112642780-112642781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139382436	chr5:112642815-112642816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549159082	chr5:112642846-112642847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149612023	chr5:112642888-112642889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557864641	chr5:112642907-112642908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111687055	chr5:112642908-112642909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555764366	chr5:112642941-112642942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571122425	chr5:112642942-112642943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538614677	chr5:112642992-112642993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147334987	chr5:112642993-112642994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572302039	chr5:112643130-112643131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542884198	chr5:112643167-112643168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554763993	chr5:112643169-112643170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558694432	chr5:112643170-112643171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10900683	chr5:112643203-112643204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376416070	chr5:112643233-112643234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112639400-112645000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:112641200-112648000	Weak transcription	HMEC	breast
3	chr5:112641200-112648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112645000-112647000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:112646800-112647400	Enhancers	HSMM	muscle
6	chr5:112647000-112647200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:112647000-112647200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:112647000-112647200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:112647200-112647800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:112647200-112648000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:112647200-112649000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:112647400-112647800	Weak transcription	HSMM	muscle
13	chr5:112647800-112648800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:112647800-112649200	Enhancers	HSMM	muscle
15	chr5:112648000-112648800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:112648000-112648800	Enhancers	A549	lung
17	chr5:112648000-112649200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:112648000-112649200	Enhancers	Hela-S3	cervix
19	chr5:112648000-112649200	Enhancers	HMEC	breast
20	chr5:112648200-112648400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:112648200-112648800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:112648200-112648800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:112648200-112648800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:112648200-112648800	Enhancers	Osteobl	bone
25	chr5:112648200-112649000	Enhancers	NHEK	skin
26	chr5:112648200-112649200	Enhancers	HUVEC	blood vessel
27	chr5:112648400-112648800	Enhancers	NH-A	brain
28	chr5:112648600-112649000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:112648800-112666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:112649000-112649400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:112649000-112649800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:112649200-112655200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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