Variant report

Variant	esv3400472
Chromosome Location	chr11:49094976-49099974
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	chr11:49098193-49098278	Lung_OC	lung:	n/a	n/a
2	CTCF	chr11:49098901-49098918	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr11:49098521-49098572	GM13976	blood:	n/a	chr11:49098536-49098544
4	MYC	chr11:49099933-49099945	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
UBTFL7	TF binding region
ENSG00000254801	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554685629	chr11:49098243-49098244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191264762	chr11:49098306-49098307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540581861	chr11:49098325-49098326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182935863	chr11:49098329-49098330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532752211	chr11:49098394-49098395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187843123	chr11:49098430-49098431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562556697	chr11:49098463-49098464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531335472	chr11:49098481-49098482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548141911	chr11:49098496-49098497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561538641	chr11:49098513-49098514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144105163	chr11:49098516-49098517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547370054	chr11:49098596-49098597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184543627	chr11:49099939-49099940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49098200-49098600	Enhancers	Liver	Liver

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