Variant report

Variant	nsv960537
Chromosome Location	chr17:15654252-15657695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:15655205-15655263	GM13977	blood:	n/a	n/a
2	CTCF	chr17:15655194-15655285	GM13976	blood:	n/a	n/a
3	CTCF	chr17:15654856-15654909	GM13976	blood:	n/a	n/a
4	POLR2A	chr17:15656456-15656607	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15655637-15655687	HEK293	kidney:	embryo
2	chr17:15655637-15655687	HCF	heart:	n/a
3	chr17:15655637-15655687	HEEpiC	esophagus:	n/a
4	chr17:15655637-15655687	AG10803	skin:	n/a
5	chr17:15655637-15655687	H1-hESC	embryonic stem cell:	embryo
6	chr17:15655637-15655687	PrEC	prostate:	n/a
7	chr17:15655637-15655687	HMEC	breast:	n/a
8	chr17:15655637-15655687	HRPEpiC	eye:	n/a
9	chr17:15655637-15655687	SKMC	muscle:	n/a
10	chr17:15655637-15655687	IMR90	lung:	fetal
11	chr17:15655637-15655687	HCT-116	colon:	n/a
12	chr17:15655637-15655687	AoSMC	blood vessel:	n/a
13	chr17:15655637-15655687	HRCEpiC	kidney:	n/a
14	chr17:15655637-15655687	A549	lung:	n/a
15	chr17:15655637-15655687	HNPCEpiC	eye:	n/a
16	chr17:15655637-15655687	HL-60	blood:	n/a
17	chr17:15655637-15655687	Hela-S3	cervix:	n/a
18	chr17:15655637-15655687	GM12878	blood:	n/a
19	chr17:15655637-15655687	SAEC	small airway:	n/a
20	chr17:15655637-15655687	K562	blood:	n/a
21	chr17:15655637-15655687	NT2-D1	testis:	n/a
22	chr17:15655637-15655687	ovcar-3	ovarian:	n/a
23	chr17:15655637-15655687	LNCaP	prostate:	n/a
24	chr17:15655637-15655687	NB4	blood:	n/a
25	chr17:15655637-15655687	T-47D	breast:	n/a
26	chr17:15655637-15655687	SK-N-SH	brain:	n/a
27	chr17:15655637-15655687	CMK	blood:	n/a
28	chr17:15655637-15655687	MCF-7	breast:	n/a
29	chr17:15655637-15655687	SK-N-SH_RA	brain:	n/a
30	chr17:15655637-15655687	AG09319	gingival:	n/a
31	chr17:15655637-15655687	RPTEC	kidney:	n/a
32	chr17:15655637-15655687	PFSK-1	brain:	n/a
33	chr17:15655637-15655687	BJ	skin:	n/a
34	chr17:15655637-15655687	Hepatocyte	liver:	n/a
35	chr17:15655637-15655687	GM12891	blood:	n/a
36	chr17:15655637-15655687	HIPEpiC	eye:	n/a
37	chr17:15655637-15655687	AG04449	skin:	fetal
38	chr17:15655637-15655687	PANC-1	pancreas:	n/a
39	chr17:15655637-15655687	ECC-1	luminal epithelium:	n/a
40	chr17:15655637-15655687	U87	brain:	n/a
41	chr17:15655637-15655687	ProgFib	skin:	n/a
42	chr17:15655637-15655687	NHBE	bronchial:	n/a
43	chr17:15655637-15655687	Caco-2	colon:	n/a
44	chr17:15655637-15655687	HPAEpiC	pulmonary alveolar:	n/a
45	chr17:15655637-15655687	HepG2	liver:	n/a
46	chr17:15655637-15655687	HUVEC	blood vessel:	n/a
47	chr17:15655637-15655687	GM12892	blood:	n/a
48	chr17:15655637-15655687	SK-N-MC	brain:	n/a
49	chr17:15655637-15655687	AG09309	skin:	n/a
50	chr17:15655637-15655687	HRE	kidney:	n/a

No data

Variant related genes	Relation type
ENSG00000233002	TF binding region
ENSG00000267227	TF binding region
ENSG00000233002	CpG island
ENSG00000267227	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530362537	chr17:15654858-15654859	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs148782857	chr17:15654881-15654882	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs72095783	chr17:15654891-15654892	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs538828438	chr17:15655221-15655222	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs558860042	chr17:15655233-15655234	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs547334651	chr17:15655637-15655638	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
7	rs560955382	chr17:15655638-15655639	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
8	rs565098050	chr17:15656457-15656458	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs57785147	chr17:15656460-15656461	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
10	rs71354646	chr17:15656462-15656463	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs8075935	chr17:15656531-15656532	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561004684	chr17:15656540-15656541	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs529677487	chr17:15656576-15656577	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs549359117	chr17:15656582-15656583	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs563093102	chr17:15656602-15656603	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	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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