Variant report

Variant	nsv977400
Chromosome Location	chr13:69674340-69679945
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	CTCF	chr13:69677225-69677404	Medullo	brain:	n/a	n/a
2	CTCF	chr13:69677220-69677370	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr13:69677180-69677330	BE2_C	brain:	n/a	n/a
4	FOS	chr13:69679770-69680018	MCF10A-Er-Src	breast:	n/a	chr13:69679884-69679891 chr13:69679884-69679893 chr13:69679882-69679894
5	FOS	chr13:69679764-69679943	MCF10A-Er-Src	breast:	n/a	chr13:69679884-69679891 chr13:69679884-69679893 chr13:69679882-69679894
6	MAFK	chr13:69674829-69675034	HepG2	liver:	n/a	chr13:69674889-69674904
7	STAT3	chr13:69675953-69676057	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:69676877..69679728-chr13:69680148..69683095,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL1-7	chr13:69675964-69676188	NONHSAT034240

Variant related genes	Relation type
SNRPFP3	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186499394	chr13:69675966-69675967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs1336682	chr13:69676030-69676031	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs1336681	chr13:69676058-69676059	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79053737	chr13:69676092-69676093	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs562550646	chr13:69676114-69676115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs560819403	chr13:69676126-69676127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs190892001	chr13:69676130-69676131	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs540379458	chr13:69676165-69676166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs183063946	chr13:69676180-69676181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs9564529	chr13:69677200-69677201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs144724330	chr13:69677224-69677225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs545499009	chr13:69677225-69677226	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552105971	chr13:69677229-69677230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570589615	chr13:69677284-69677285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs531042551	chr13:69677305-69677306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs1577698	chr13:69677351-69677352	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550275031	chr13:69677395-69677396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs186465051	chr13:69679774-69679775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs191296352	chr13:69679789-69679790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs543393789	chr13:69679802-69679803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs182241047	chr13:69679829-69679830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs2210905	chr13:69679836-69679837	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs28469378	chr13:69679872-69679873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD

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

No data

Quick Search:

Input of quick search could be:

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links