Variant report

Variant	nsv977241
Chromosome Location	chr13:52857547-52871544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:52864873-52864902	HepG2	liver:	n/a	n/a
2	CTCF	chr13:52869457-52869474	A549	lung:	n/a	n/a
3	CTCF	chr13:52862405-52862481	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr13:52867234-52867278	MCF-7	breast:	n/a	n/a
5	CTCF	chr13:52860309-52860388	Fibrobl	skin:	n/a	n/a
6	MYC	chr13:52863181-52863214	MCF-7	breast:	n/a	n/a
7	PBX3	chr13:52871393-52871619	GM12878	blood:	n/a	n/a
8	POLR2A	chr13:52860336-52860405	MCF-7	breast:	n/a	n/a
9	POLR2A	chr13:52863067-52863262	A549	lung:	n/a	n/a
10	POLR2A	chr13:52865330-52865409	MCF-7	breast:	n/a	n/a
11	POLR2A	chr13:52865475-52865550	MCF-7	breast:	n/a	n/a
12	POLR2A	chr13:52863125-52863320	MCF-7	breast:	n/a	n/a
13	POLR2A	chr13:52861074-52861126	MCF-7	breast:	n/a	n/a
14	POLR2A	chr13:52863054-52863063	A549	lung:	n/a	n/a
15	POLR2A	chr13:52863121-52863222	MCF-7	breast:	n/a	n/a
16	POLR2A	chr13:52863026-52863052	A549	lung:	n/a	n/a
17	SPI1	chr13:52871102-52871326	K562	blood:	n/a	chr13:52871226-52871239 chr13:52871209-52871222 chr13:52871229-52871236 chr13:52871212-52871219
18	SPI1	chr13:52871117-52871355	K562	blood:	n/a	chr13:52871226-52871239 chr13:52871209-52871222 chr13:52871229-52871236 chr13:52871212-52871219
19	SPI1	chr13:52871164-52871301	GM12878	blood:	n/a	chr13:52871226-52871239 chr13:52871209-52871222 chr13:52871229-52871236 chr13:52871212-52871219
20	SPI1	chr13:52871110-52871368	GM12878	blood:	n/a	chr13:52871226-52871239 chr13:52871209-52871222 chr13:52871229-52871236 chr13:52871212-52871219
21	STAT3	chr13:52868300-52868306	MCF10A-Er-Src	breast:	n/a	n/a
22	TCF3	chr13:52871336-52871621	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52866820-52866870	HCF	heart:	n/a
2	chr13:52866820-52866870	SAEC	small airway:	n/a
3	chr13:52866820-52866870	IMR90	lung:	fetal
4	chr13:52866820-52866870	HPAEpiC	pulmonary alveolar:	n/a
5	chr13:52866820-52866870	HAEpiC	amniotic membrane:	n/a
6	chr13:52866820-52866870	Jurkat	blood:	n/a
7	chr13:52866820-52866870	H1-hESC	embryonic stem cell:	embryo
8	chr13:52866820-52866870	LNCaP	prostate:	n/a
9	chr13:52866820-52866870	K562	blood:	n/a
10	chr13:52866820-52866870	GM12892	blood:	n/a
11	chr13:52866820-52866870	HRE	kidney:	n/a
12	chr13:52866820-52866870	AG04450	lung:	fetal
13	chr13:52866820-52866870	GM19239	blood:	n/a
14	chr13:52866820-52866870	MCF-7	breast:	n/a
15	chr13:52866820-52866870	HCPEpiC	choroid plexus:	n/a
16	chr13:52866820-52866870	MCF10A-Er-Src	breast:	n/a
17	chr13:52866820-52866870	CMK	blood:	n/a
18	chr13:52866820-52866870	HEEpiC	esophagus:	n/a
19	chr13:52866820-52866870	NHBE	bronchial:	n/a
20	chr13:52866820-52866870	T-47D	breast:	n/a
21	chr13:52866820-52866870	AG04449	skin:	fetal
22	chr13:52866820-52866870	Hepatocyte	liver:	n/a
23	chr13:52866820-52866870	A549	lung:	n/a
24	chr13:52866820-52866870	SK-N-SH_RA	brain:	n/a
25	chr13:52866820-52866870	Hela-S3	cervix:	n/a
26	chr13:52866820-52866870	PANC-1	pancreas:	n/a
27	chr13:52866820-52866870	ovcar-3	ovarian:	n/a
28	chr13:52866820-52866870	RPTEC	kidney:	n/a
29	chr13:52866820-52866870	HUVEC	blood vessel:	n/a
30	chr13:52866820-52866870	HL-60	blood:	n/a
31	chr13:52866820-52866870	HMEC	breast:	n/a
32	chr13:52866820-52866870	Caco-2	colon:	n/a
33	chr13:52866820-52866870	GM12891	blood:	n/a
34	chr13:52866820-52866870	GM06990	blood:	n/a
35	chr13:52866820-52866870	NB4	blood:	n/a
36	chr13:52866820-52866870	BE2_C	brain:	n/a
37	chr13:52866820-52866870	HepG2	liver:	n/a
38	chr13:52866820-52866870	AoSMC	blood vessel:	n/a
39	chr13:52866820-52866870	U87	brain:	n/a
40	chr13:52866820-52866870	HCT-116	colon:	n/a
41	chr13:52866820-52866870	PFSK-1	brain:	n/a
42	chr13:52866820-52866870	HRCEpiC	kidney:	n/a
43	chr13:52866820-52866870	HNPCEpiC	eye:	n/a
44	chr13:52866820-52866870	BJ	skin:	n/a
45	chr13:52866820-52866870	ProgFib	skin:	n/a
46	chr13:52866820-52866870	SK-N-MC	brain:	n/a
47	chr13:52866820-52866870	SKMC	muscle:	n/a
48	chr13:52866820-52866870	PrEC	prostate:	n/a
49	chr13:52866820-52866870	HIPEpiC	eye:	n/a
50	chr13:52866820-52866870	SK-N-SH	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000217576	TF binding region
ENSG00000217576	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181365949	chr13:52866821-52866822	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs57746612	chr13:52866828-52866829	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs570566128	chr13:52867240-52867241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs9535975	chr13:52867241-52867242	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs188778930	chr13:52867271-52867272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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

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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