Variant report

Variant	nsv980645
Chromosome Location	chr5:57457017-57459413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:57459313-57459475	HepG2	liver:	n/a	n/a
2	CTCF	chr5:57458237-57458266	LNCaP	prostate:	n/a	n/a
3	FOXA2	chr5:57457679-57458073	A549	lung:	n/a	n/a
4	POLR2A	chr5:57457081-57457183	MCF-7	breast:	n/a	n/a
5	POLR2A	chr5:57457077-57457093	Gliobla	brain:	n/a	n/a
6	POLR2A	chr5:57457095-57457115	Gliobla	brain:	n/a	n/a
7	POLR2A	chr5:57457127-57457201	Gliobla	brain:	n/a	n/a
8	POLR2A	chr5:57457185-57457208	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
PGAM1P1	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560839370	chr5:57457018-57457019	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560850028	chr5:57457025-57457026	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115606354	chr5:57457026-57457027	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571287660	chr5:57457058-57457059	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115430006	chr5:57457076-57457077	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116102176	chr5:57457111-57457112	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192323779	chr5:57457113-57457114	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534351845	chr5:57457126-57457127	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374207567	chr5:57457138-57457139	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150389819	chr5:57457172-57457173	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567946349	chr5:57457196-57457197	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576958496	chr5:57457202-57457203	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537881494	chr5:57457213-57457214	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75993072	chr5:57457235-57457236	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556507109	chr5:57457245-57457246	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185638984	chr5:57457303-57457304	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545101484	chr5:57457308-57457309	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566635037	chr5:57457363-57457364	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544458462	chr5:57457381-57457382	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138401143	chr5:57457402-57457403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571949568	chr5:57457451-57457452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542407970	chr5:57457566-57457567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530041956	chr5:57457590-57457591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143894466	chr5:57457672-57457673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146988644	chr5:57457711-57457712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369405575	chr5:57457714-57457715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190508422	chr5:57457734-57457735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2112902	chr5:57457739-57457740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564919219	chr5:57457756-57457757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531967632	chr5:57457758-57457759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181782215	chr5:57457762-57457763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377206620	chr5:57457774-57457775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527935738	chr5:57457782-57457783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528491212	chr5:57457805-57457806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10036219	chr5:57457837-57457838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571754476	chr5:57457852-57457853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370052230	chr5:57457862-57457863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368299611	chr5:57457891-57457892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567899518	chr5:57457927-57457928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538547770	chr5:57457942-57457943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556531304	chr5:57457957-57457958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571623852	chr5:57457958-57457959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532583068	chr5:57458049-57458050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553895628	chr5:57458079-57458080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572183323	chr5:57458088-57458089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550791806	chr5:57458092-57458093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542444984	chr5:57458184-57458185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533941579	chr5:57458201-57458202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373060463	chr5:57458252-57458253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185238667	chr5:57458299-57458300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57457000-57457200	ZNF genes & repeats	Pancreas	Pancrea
2	chr5:57457000-57457400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:57457000-57457400	Enhancers	Gastric	stomach
4	chr5:57457000-57457400	Enhancers	Spleen	Spleen
5	chr5:57457200-57457600	Weak transcription	Pancreas	Pancrea
6	chr5:57457600-57464000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:57458800-57459200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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