Variant report

Variant	esv2762914
Chromosome Location	chr11:62813912-62825164
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	chr11:62814640-62814790	GM12864	blood:	n/a	n/a
2	CTCF	chr11:62814640-62814790	GM12866	blood:	n/a	n/a
3	CTCF	chr11:62815324-62815355	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:62814341-62814345	ProgFib	skin:	n/a	n/a
5	CTCF	chr11:62818376-62818430	GM10248	blood:	n/a	n/a
6	CTCF	chr11:62814290-62814321	ProgFib	skin:	n/a	n/a
7	MAFK	chr11:62821221-62821405	HepG2	liver:	n/a	chr11:62821330-62821345
8	MAFK	chr11:62821225-62821405	HepG2	liver:	n/a	chr11:62821330-62821345
9	POLR2A	chr11:62814219-62814264	Gliobla	brain:	n/a	n/a
10	POLR2A	chr11:62815135-62815474	A549	lung:	n/a	n/a
11	POLR2A	chr11:62815101-62815102	A549	lung:	n/a	n/a
12	POLR2A	chr11:62815110-62815410	Gliobla	brain:	n/a	n/a
13	STAT3	chr11:62822117-62822291	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr11:62823617-62823627	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000253547	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11231322	chr11:62814234-62814235	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536469538	chr11:62814247-62814248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs114883022	chr11:62814248-62814249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute myeloid leukemia	20729466	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
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Breast cancer	22522925	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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