Variant report

Variant	esv3413838
Chromosome Location	chr11:59483281-59483865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:59483560-59483811	K562	blood:	n/a	n/a
2	CEBPD	chr11:59483600-59483863	K562	blood:	n/a	n/a
3	CUX1	chr11:59483609-59483840	K562	blood:	n/a	n/a
4	EP300	chr11:59483618-59483797	K562	blood:	n/a	n/a
5	SPI1	chr11:59483210-59483339	K562	blood:	n/a	chr11:59483288-59483301 chr11:59483287-59483300
6	TAL1	chr11:59483536-59483862	K562	blood:	n/a	n/a
7	TEAD4	chr11:59483525-59483887	K562	blood:	n/a	n/a
8	TEAD4	chr11:59483473-59483945	K562	blood:	n/a	n/a
9	ZMIZ1	chr11:59483595-59483844	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:59483722..59486597-chr11:59487703..59490469,2	K562	blood:
2	chr11:59436021..59437623-chr11:59481506..59483515,2	K562	blood:
3	chr11:59479738..59481796-chr11:59482319..59484828,2	K562	blood:
4	chr11:59479738..59482245-chr11:59482319..59485600,3	K562	blood:
5	chr11:59436021..59438206-chr11:59481506..59484047,3	K562	blood:

No data

Variant related genes	Relation type
OR10V1	TF binding region
ENSG00000255355	chromatin interactions
ENSG00000172289	chromatin interactions
ENSG00000166900	chromatin interactions
ENSG00000166889	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537759717	chr11:59483330-59483331	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs555932242	chr11:59483342-59483343	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs473979	chr11:59483353-59483354	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545066923	chr11:59483412-59483413	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs370990790	chr11:59483413-59483414	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs182692898	chr11:59483418-59483419	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs115306679	chr11:59483456-59483457	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs78022026	chr11:59483471-59483472	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs112486949	chr11:59483478-59483479	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs145503579	chr11:59483501-59483502	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs188211699	chr11:59483502-59483503	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs533392563	chr11:59483513-59483514	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs147725610	chr11:59483522-59483523	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs192786022	chr11:59483611-59483612	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs534306139	chr11:59483635-59483636	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs375811296	chr11:59483636-59483637	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs518427	chr11:59483693-59483694	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs567364009	chr11:59483697-59483698	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs537747149	chr11:59483755-59483756	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs556068477	chr11:59483756-59483757	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs577753406	chr11:59483765-59483766	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs538421697	chr11:59483790-59483791	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs141196242	chr11:59483805-59483806	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs114787968	chr11:59483815-59483816	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs542784128	chr11:59483836-59483837	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs540684	chr11:59483848-59483849	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59478200-59489600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:59483200-59483600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:59483200-59483600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:59483200-59483800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:59483200-59483800	Enhancers	K562	blood
6	chr11:59483400-59483800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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