Variant report

Variant	nsv469543
Chromosome Location	chr10:49002272-49087819
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	BCL11A	chr10:49005038-49005190	GM12878	blood:	n/a	n/a
2	BCL11A	chr10:49005020-49005346	GM12878	blood:	n/a	n/a
3	BHLHE40	chr10:49080042-49080383	HepG2	liver:	n/a	n/a
4	BHLHE40	chr10:49045988-49046173	HepG2	liver:	n/a	n/a
5	CEBPB	chr10:49068168-49068380	K562	blood:	n/a	n/a
6	CEBPB	chr10:49004870-49005359	GM12878	blood:	n/a	n/a
7	CEBPB	chr10:49046671-49046868	IMR90	lung:	n/a	chr10:49046694-49046707 chr10:49046696-49046705 chr10:49046696-49046705 chr10:49046696-49046705
8	CEBPB	chr10:49068108-49068463	K562	blood:	n/a	n/a
9	CTCF	chr10:49045764-49046004	A549	lung:	n/a	n/a
10	CTCF	chr10:49026119-49026143	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr10:49085180-49085452	A549	lung:	n/a	chr10:49085357-49085366
12	CTCF	chr10:49045786-49046025	GM13977	blood:	n/a	n/a
13	CTCF	chr10:49062670-49062741	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr10:49084734-49084786	GM13976	blood:	n/a	n/a
15	CTCF	chr10:49050023-49050106	GM13976	blood:	n/a	n/a
16	CTCF	chr10:49085197-49085500	GM13977	blood:	n/a	chr10:49085357-49085366
17	CTCF	chr10:49082610-49082656	GM13976	blood:	n/a	n/a
18	CTCF	chr10:49045775-49045998	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr10:49083476-49083569	Medullo	brain:	n/a	n/a
20	CTCF	chr10:49072110-49072257	LNCaP	prostate:	n/a	n/a
21	CTCF	chr10:49045794-49045994	GM10266	blood:	n/a	n/a
22	CTCF	chr10:49045812-49046006	Lung_OC	lung:	n/a	n/a
23	CTCF	chr10:49085243-49085470	Kidney_OC	kidney:	n/a	chr10:49085357-49085366
24	CTCF	chr10:49085153-49085517	K562	blood:	n/a	chr10:49085357-49085366
25	CTCF	chr10:49053119-49053282	GM13976	blood:	n/a	n/a
26	CTCF	chr10:49054620-49054651	Medullo	brain:	n/a	n/a
27	CTCF	chr10:49018566-49018902	A549	lung:	n/a	n/a
28	CTCF	chr10:49018689-49018829	LNCaP	prostate:	n/a	n/a
29	CTCF	chr10:49081784-49081817	GM10248	blood:	n/a	n/a
30	CTCF	chr10:49018429-49018917	A549	lung:	n/a	n/a
31	CTCF	chr10:49084383-49084460	GM10248	blood:	n/a	n/a
32	CTCF	chr10:49085271-49085498	Lung_OC	lung:	n/a	chr10:49085357-49085366
33	CTCF	chr10:49046853-49046952	Lung_OC	lung:	n/a	chr10:49046883-49046904 chr10:49046888-49046906
34	CTCF	chr10:49085240-49085518	Medullo	brain:	n/a	chr10:49085357-49085366
35	CTCF	chr10:49085194-49085523	A549	lung:	n/a	chr10:49085357-49085366
36	CTCF	chr10:49047698-49047724	GM10266	blood:	n/a	n/a
37	CTCF	chr10:49069540-49069636	GM10248	blood:	n/a	n/a
38	CTCF	chr10:49051021-49051066	Medullo	brain:	n/a	n/a
39	CTCF	chr10:49061786-49061844	GM10248	blood:	n/a	n/a
40	CTCF	chr10:49018713-49018822	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr10:49011705-49011722	GM13977	blood:	n/a	n/a
42	CTCF	chr10:49045793-49046089	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr10:49053403-49053436	Medullo	brain:	n/a	n/a
44	CTCF	chr10:49015688-49015734	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr10:49085287-49085458	GM13976	blood:	n/a	chr10:49085357-49085366
46	CTCF	chr10:49046872-49046926	GM10266	blood:	n/a	chr10:49046883-49046904 chr10:49046888-49046906
47	CTCF	chr10:49055858-49055964	Lung_OC	lung:	n/a	n/a
48	CTCF	chr10:49085064-49085613	A549	lung:	n/a	chr10:49085357-49085366
49	CTCF	chr10:49014529-49014667	Lung_OC	lung:	n/a	n/a
50	CTCF	chr10:49076571-49076633	GM20000	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN20B-2	chr10:49018309-49018413	XLOC_008814

Variant related genes	Relation type
FAM35EP	TF binding region
ENSG00000232426	TF binding region
MED8	miRNA target sites

Extended variants
information (count: 6 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60383427	chr10:49085107-49085108	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs375529520	chr10:49085191-49085192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs12259364	chr10:49085208-49085209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs59330201	chr10:49085228-49085229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs57832763	chr10:49085252-49085253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs9422159	chr10:49085259-49085260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD

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

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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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