Variant report

Variant	nsv517020
Chromosome Location	chr5:52670974-52677451
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	chr5:52648239..52650977-chr5:52671343..52673894,2	K562	blood:

Extended variants
information (count: 272 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12514897	chr5:52670974-52670975	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs544061388	chr5:52670979-52670980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553006166	chr5:52671030-52671031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574198673	chr5:52671039-52671040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535043991	chr5:52671095-52671096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556532138	chr5:52671116-52671117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574944316	chr5:52671209-52671210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546058968	chr5:52671232-52671233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564259605	chr5:52671240-52671241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572963639	chr5:52671255-52671256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149032327	chr5:52671258-52671259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78090115	chr5:52671275-52671276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182270382	chr5:52671340-52671341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529393638	chr5:52671407-52671408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186835590	chr5:52671409-52671410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562847748	chr5:52671414-52671415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140087264	chr5:52671479-52671480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34924451	chr5:52671492-52671493	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112308801	chr5:52671536-52671537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552016300	chr5:52671554-52671555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143065970	chr5:52671572-52671573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34955842	chr5:52671575-52671576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192928356	chr5:52671576-52671577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184966410	chr5:52671620-52671621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190157636	chr5:52671635-52671636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34624359	chr5:52671655-52671656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397881572	chr5:52671664-52671665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567562463	chr5:52671737-52671738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535176413	chr5:52671749-52671750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548763981	chr5:52671773-52671774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574880456	chr5:52671797-52671798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539079966	chr5:52671798-52671799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557983334	chr5:52671802-52671803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192971910	chr5:52671804-52671805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552219209	chr5:52671822-52671823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540559080	chr5:52671860-52671861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555595903	chr5:52671869-52671870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573909157	chr5:52671928-52671929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570970422	chr5:52671930-52671931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544701685	chr5:52671932-52671933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562985836	chr5:52671937-52671938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533331736	chr5:52671950-52671951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184772819	chr5:52671952-52671953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368656798	chr5:52671971-52671972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545077140	chr5:52672009-52672010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71577094	chr5:52672016-52672017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115737745	chr5:52672017-52672018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71953425	chr5:52672022-52672023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148243493	chr5:52672029-52672030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530188937	chr5:52672030-52672031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52662600-52674200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:52665000-52674200	Weak transcription	NH-A	brain
3	chr5:52665200-52672200	Weak transcription	NHLF	lung
4	chr5:52665400-52674200	Weak transcription	Hela-S3	cervix
5	chr5:52665800-52673600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:52670000-52674000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:52670000-52674800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:52670200-52673400	Weak transcription	NHDF-Ad	bronchial
9	chr5:52670200-52674000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:52670200-52674200	Weak transcription	Osteobl	bone
11	chr5:52670200-52674400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:52670600-52673800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:52670600-52674200	Weak transcription	HMEC	breast
14	chr5:52670600-52674400	Weak transcription	HUVEC	blood vessel
15	chr5:52671000-52671400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:52671000-52671400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:52671000-52671800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:52671000-52672400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:52672200-52673400	Enhancers	NHLF	lung
20	chr5:52673400-52674200	Weak transcription	NHLF	lung
21	chr5:52673400-52674600	Enhancers	NHDF-Ad	bronchial
22	chr5:52673600-52675200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:52673800-52675000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:52674000-52675200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:52674000-52675400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:52674200-52674600	Enhancers	Osteobl	bone
27	chr5:52674200-52675000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:52674200-52675000	Enhancers	NH-A	brain
29	chr5:52674200-52675200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:52674200-52675200	Enhancers	Hela-S3	cervix
31	chr5:52674200-52675200	Enhancers	HMEC	breast
32	chr5:52674200-52675200	Enhancers	NHEK	skin
33	chr5:52674200-52675400	Enhancers	NHLF	lung
34	chr5:52674400-52674600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:52674400-52674800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:52674400-52675000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:52674400-52675000	Enhancers	A549	lung
38	chr5:52674400-52675000	Enhancers	HUVEC	blood vessel
39	chr5:52674600-52675000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:52674600-52675000	Flanking Active TSS	NHDF-Ad	bronchial
41	chr5:52674600-52675000	Flanking Active TSS	Osteobl	bone
42	chr5:52674800-52675200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:52675000-52675400	Enhancers	NHDF-Ad	bronchial
44	chr5:52675200-52675600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:52675200-52678800	Weak transcription	NHEK	skin
46	chr5:52675200-52681200	Weak transcription	HMEC	breast

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