Variant report

Variant	nsv964863
Chromosome Location	chr5:62071029-62073562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:62072439-62072720	K562	blood:	n/a	n/a
2	CTCF	chr5:62072861-62072871	GM20000	blood:	n/a	n/a
3	CTCF	chr5:62072784-62072846	GM20000	blood:	n/a	n/a
4	CTCF	chr5:62072936-62073048	Kidney_OC	kidney:	n/a	n/a
5	EP300	chr5:62071125-62071128	GM12878	blood:	n/a	n/a
6	HEY1	chr5:62072931-62073116	HepG2	liver:	n/a	n/a
7	MAFF	chr5:62070684-62071277	HepG2	liver:	n/a	chr5:62070801-62070819 chr5:62070807-62070821
8	MAFK	chr5:62070683-62071296	IMR90	lung:	n/a	chr5:62070808-62070817 chr5:62070804-62070824 chr5:62070806-62070822 chr5:62070808-62070818
9	MAFK	chr5:62070682-62071320	HepG2	liver:	n/a	chr5:62070808-62070817 chr5:62070804-62070824 chr5:62070806-62070822 chr5:62070808-62070818
10	MAFK	chr5:62070747-62071259	HepG2	liver:	n/a	chr5:62070808-62070817 chr5:62070804-62070824 chr5:62070806-62070822 chr5:62070808-62070818
11	POLR2A	chr5:62072968-62073082	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:62072978-62073066	A549	lung:	n/a	n/a
13	POLR2A	chr5:62072966-62073070	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:62071847-62071966	A549	lung:	n/a	n/a
15	POLR2A	chr5:62072948-62073086	Hela-S3	cervix:	n/a	n/a
16	TAF1	chr5:62072860-62073225	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF1	chr5:62072389-62072702	K562	blood:	n/a	chr5:62072612-62072623 chr5:62072623-62072634
18	USF1	chr5:62072541-62072668	HepG2	liver:	n/a	chr5:62072612-62072623 chr5:62072623-62072634
19	USF1	chr5:62072498-62072675	HepG2	liver:	n/a	chr5:62072612-62072623 chr5:62072623-62072634

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:62072660-62072710	RPTEC	kidney:	n/a
2	chr5:62071572-62071622	PrEC	prostate:	n/a
3	chr5:62072660-62072710	HEK293	kidney:	embryo
4	chr5:62071572-62071622	MCF-7	breast:	n/a
5	chr5:62072660-62072710	AG10803	skin:	n/a
6	chr5:62072660-62072710	HepG2	liver:	n/a
7	chr5:62071572-62071622	Hela-S3	cervix:	n/a
8	chr5:62071572-62071622	GM06990	blood:	n/a
9	chr5:62072660-62072710	PFSK-1	brain:	n/a
10	chr5:62072660-62072710	Caco-2	colon:	n/a
11	chr5:62072660-62072710	AG04449	skin:	fetal
12	chr5:62071572-62071622	HRPEpiC	eye:	n/a
13	chr5:62071572-62071622	HEEpiC	esophagus:	n/a
14	chr5:62073161-62073211	NH-A	brain:	n/a
15	chr5:62072660-62072710	PANC-1	pancreas:	n/a
16	chr5:62072660-62072710	GM19239	blood:	n/a
17	chr5:62071572-62071622	HEK293	kidney:	embryo
18	chr5:62072660-62072710	NHBE	bronchial:	n/a
19	chr5:62071572-62071622	Hepatocyte	liver:	n/a
20	chr5:62071572-62071622	SK-N-SH_RA	brain:	n/a
21	chr5:62071572-62071622	HCPEpiC	choroid plexus:	n/a
22	chr5:62072660-62072710	HPAEpiC	pulmonary alveolar:	n/a
23	chr5:62073161-62073211	GM12878	blood:	n/a
24	chr5:62072660-62072710	AG09319	gingival:	n/a
25	chr5:62071572-62071622	AG10803	skin:	n/a
26	chr5:62072660-62072710	HCPEpiC	choroid plexus:	n/a
27	chr5:62072660-62072710	SAEC	small airway:	n/a
28	chr5:62073161-62073211	AG10803	skin:	n/a
29	chr5:62071572-62071622	Caco-2	colon:	n/a
30	chr5:62072660-62072710	NB4	blood:	n/a
31	chr5:62071572-62071622	GM12892	blood:	n/a
32	chr5:62071572-62071622	NH-A	brain:	n/a
33	chr5:62073161-62073211	HAEpiC	amniotic membrane:	n/a
34	chr5:62073161-62073211	Hela-S3	cervix:	n/a
35	chr5:62072660-62072710	AG04450	lung:	fetal
36	chr5:62071572-62071622	ECC-1	luminal epithelium:	n/a
37	chr5:62071572-62071622	K562	blood:	n/a
38	chr5:62071572-62071622	PFSK-1	brain:	n/a
39	chr5:62072660-62072710	NH-A	brain:	n/a
40	chr5:62072660-62072710	CMK	blood:	n/a
41	chr5:62073161-62073211	Caco-2	colon:	n/a
42	chr5:62071572-62071622	GM12891	blood:	n/a
43	chr5:62072660-62072710	A549	lung:	n/a
44	chr5:62073161-62073211	HRE	kidney:	n/a
45	chr5:62072660-62072710	BJ	skin:	n/a
46	chr5:62073161-62073211	HIPEpiC	eye:	n/a
47	chr5:62071572-62071622	HRE	kidney:	n/a
48	chr5:62071572-62071622	HAEpiC	amniotic membrane:	n/a
49	chr5:62073161-62073211	SAEC	small airway:	n/a
50	chr5:62073161-62073211	AG09319	gingival:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:62068406..62072262-chr5:62073628..62078748,5	K562	blood:
2	chr5:62069461..62071077-chr5:62076501..62078748,2	K562	blood:

No data

Variant related genes	Relation type
ISCA1P1	TF binding region
ISCA1P1	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542605967	chr5:62072837-62072838	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs374044622	chr5:62072872-62072873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs531778688	chr5:62072894-62072895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs377745737	chr5:62072921-62072922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs193187866	chr5:62072952-62072953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369764639	chr5:62072963-62072964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs375920226	chr5:62072999-62073000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs373284097	chr5:62073023-62073024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376162393	chr5:62073059-62073060	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370852401	chr5:62073061-62073062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs373927095	chr5:62073071-62073072	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547984858	chr5:62073085-62073086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567822726	chr5:62073089-62073090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs377118243	chr5:62073105-62073106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs530426079	chr5:62073117-62073118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs1845526	chr5:62073118-62073119	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569301581	chr5:62073135-62073136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs538283615	chr5:62073153-62073154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558209940	chr5:62073158-62073159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565461546	chr5:62073164-62073165	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs534487430	chr5:62073165-62073166	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs144511473	chr5:62073166-62073167	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs375571834	chr5:62073176-62073177	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs16891065	chr5:62073197-62073198	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
Intellectual disability	22102821	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
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	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
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	20729466	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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