Variant report

Variant	esv3514297
Chromosome Location	chr13:85936633-85937673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr13:85937504-85937860	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:85937518-85937568	Jurkat	blood:	n/a
2	chr13:85937518-85937568	NHDF-neo	bronchial:	n/a
3	chr13:85937518-85937568	HPAEpiC	pulmonary alveolar:	n/a
4	chr13:85937518-85937568	HCM	heart:	n/a
5	chr13:85937518-85937568	SK-N-SH_RA	brain:	n/a
6	chr13:85937518-85937568	SAEC	small airway:	n/a
7	chr13:85937518-85937568	PrEC	prostate:	n/a
8	chr13:85937518-85937568	HepG2	liver:	n/a
9	chr13:85937518-85937568	GM06990	blood:	n/a
10	chr13:85937518-85937568	PFSK-1	brain:	n/a
11	chr13:85937518-85937568	AG09309	skin:	n/a
12	chr13:85937518-85937568	HL-60	blood:	n/a
13	chr13:85937518-85937568	PANC-1	pancreas:	n/a
14	chr13:85937518-85937568	HCPEpiC	choroid plexus:	n/a
15	chr13:85937518-85937568	AG04450	lung:	fetal
16	chr13:85937518-85937568	HNPCEpiC	eye:	n/a
17	chr13:85937518-85937568	GM12878	blood:	n/a
18	chr13:85937518-85937568	RPTEC	kidney:	n/a
19	chr13:85937518-85937568	GM12891	blood:	n/a
20	chr13:85937518-85937568	HRE	kidney:	n/a
21	chr13:85937518-85937568	ProgFib	skin:	n/a
22	chr13:85937518-85937568	SKMC	muscle:	n/a
23	chr13:85937518-85937568	U87	brain:	n/a
24	chr13:85937518-85937568	NHBE	bronchial:	n/a
25	chr13:85937518-85937568	NH-A	brain:	n/a
26	chr13:85937518-85937568	CMK	blood:	n/a
27	chr13:85937518-85937568	Hela-S3	cervix:	n/a
28	chr13:85937518-85937568	Hepatocyte	liver:	n/a
29	chr13:85937518-85937568	AG04449	skin:	fetal
30	chr13:85937518-85937568	GM19239	blood:	n/a
31	chr13:85937518-85937568	AG09319	gingival:	n/a
32	chr13:85937518-85937568	HRPEpiC	eye:	n/a
33	chr13:85937518-85937568	SK-N-MC	brain:	n/a
34	chr13:85937518-85937568	LNCaP	prostate:	n/a
35	chr13:85937518-85937568	SK-N-SH	brain:	n/a
36	chr13:85937518-85937568	T-47D	breast:	n/a
37	chr13:85937518-85937568	A549	lung:	n/a
38	chr13:85937518-85937568	HCT-116	colon:	n/a
39	chr13:85937518-85937568	HCF	heart:	n/a
40	chr13:85937518-85937568	NT2-D1	testis:	n/a
41	chr13:85937518-85937568	AoSMC	blood vessel:	n/a
42	chr13:85937518-85937568	HAEpiC	amniotic membrane:	n/a
43	chr13:85937518-85937568	HRCEpiC	kidney:	n/a
44	chr13:85937518-85937568	H1-hESC	embryonic stem cell:	embryo
45	chr13:85937518-85937568	GM12892	blood:	n/a
46	chr13:85937518-85937568	ECC-1	luminal epithelium:	n/a
47	chr13:85937518-85937568	K562	blood:	n/a
48	chr13:85937518-85937568	HUVEC	blood vessel:	n/a
49	chr13:85937518-85937568	NB4	blood:	n/a
50	chr13:85937518-85937568	IMR90	lung:	fetal

No data

Variant related genes	Relation type
LINC00351	TF binding region
LINC00351	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533478792	chr13:85937511-85937512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs551886685	chr13:85937523-85937524	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs4911012	chr13:85937558-85937559	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4528466	chr13:85937569-85937570	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555829457	chr13:85937577-85937578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs566724824	chr13:85937623-85937624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs534963217	chr13:85937631-85937632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs553376587	chr13:85937641-85937642	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571673603	chr13:85937661-85937662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-small cell lung cancer	16651412	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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