Variant report

Variant	esv2285458
Chromosome Location	chr5:99384436-99384437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:99384368-99384728	GM12878	blood:	n/a	n/a
2	BATF	chr5:99384412-99384822	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:99384419-99384722	GM12878	blood:	n/a	n/a
4	BCL11A	chr5:99384271-99384770	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:99384277-99384855	HepG2	liver:	n/a	n/a
6	CEBPD	chr5:99384412-99384756	K562	blood:	n/a	n/a
7	EBF1	chr5:99384356-99384835	GM12878	blood:	n/a	n/a
8	EBF1	chr5:99384408-99384654	GM12878	blood:	n/a	n/a
9	EP300	chr5:99384330-99384743	GM12878	blood:	n/a	n/a
10	EP300	chr5:99384427-99384654	GM12878	blood:	n/a	n/a
11	FOSL2	chr5:99384202-99385402	HepG2	liver:	n/a	chr5:99384446-99384455
12	FOSL2	chr5:99384295-99384850	HepG2	liver:	n/a	chr5:99384446-99384455
13	GABPA	chr5:99384364-99384761	Hela-S3	cervix:	n/a	n/a
14	GATA2	chr5:99384346-99384775	K562	blood:	n/a	n/a
15	HEY1	chr5:99384276-99384771	HepG2	liver:	n/a	n/a
16	HEY1	chr5:99384392-99384556	HepG2	liver:	n/a	n/a
17	HEY1	chr5:99384405-99384735	K562	blood:	n/a	n/a
18	IRF4	chr5:99384382-99384839	GM12878	blood:	n/a	n/a
19	IRF4	chr5:99384383-99384766	GM12878	blood:	n/a	n/a
20	JUND	chr5:99384436-99384549	HepG2	liver:	n/a	chr5:99384446-99384455
21	JUND	chr5:99384374-99384825	HepG2	liver:	n/a	chr5:99384446-99384455
22	NR2F2	chr5:99384180-99385503	K562	blood:	n/a	n/a
23	PAX5	chr5:99384370-99384782	GM12878	blood:	n/a	n/a
24	PAX5	chr5:99384285-99384764	GM12878	blood:	n/a	n/a
25	PAX5	chr5:99384186-99385410	GM12878	blood:	n/a	n/a
26	PBX3	chr5:99384436-99384708	GM12878	blood:	n/a	n/a
27	PBX3	chr5:99384437-99384581	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:99384423-99384654	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:99384408-99384734	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:99384348-99384847	H1-hESC	embryonic stem cell:	n/a	n/a
31	POU2F2	chr5:99384435-99384707	GM12878	blood:	n/a	n/a
32	POU2F2	chr5:99384384-99384829	GM12878	blood:	n/a	n/a
33	RXRA	chr5:99384410-99384666	HepG2	liver:	n/a	n/a
34	RXRA	chr5:99384303-99384780	HepG2	liver:	n/a	n/a
35	RXRA	chr5:99384272-99384913	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr5:99384416-99384546	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr5:99384305-99384760	HepG2	liver:	n/a	n/a
38	SIX5	chr5:99384278-99384788	K562	blood:	n/a	n/a
39	SIX5	chr5:99384379-99384828	GM12878	blood:	n/a	n/a
40	SIX5	chr5:99384409-99384733	K562	blood:	n/a	n/a
41	SP1	chr5:99384304-99384807	GM12878	blood:	n/a	n/a
42	SP1	chr5:99384308-99384809	HepG2	liver:	n/a	n/a
43	SP1	chr5:99384392-99384837	GM12878	blood:	n/a	n/a
44	SPI1	chr5:99384299-99384828	GM12878	blood:	n/a	n/a
45	SPI1	chr5:99384403-99384552	GM12878	blood:	n/a	n/a
46	SPI1	chr5:99384424-99384747	K562	blood:	n/a	n/a
47	SPI1	chr5:99384418-99384726	GM12878	blood:	n/a	n/a
48	TAF1	chr5:99384414-99384726	GM12878	blood:	n/a	n/a
49	TAF1	chr5:99384425-99384739	Hela-S3	cervix:	n/a	n/a
50	TAF1	chr5:99384413-99384728	Hela-S3	cervix:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000264839	TF binding region
ENSG00000270232	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57824518	chr5:99384436-99384437	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553507697	chr5:99384437-99384438	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	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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