Variant report

Variant	esv3457742
Chromosome Location	chr11:23745260-23745827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:23745761..23746467-chr2:67682721..67683342,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 53 )

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	rs376262488	chr11:23745326-23745327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545479793	chr11:23745352-23745353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558707106	chr11:23745376-23745377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575580997	chr11:23745472-23745473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144321676	chr11:23745482-23745483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111375550	chr11:23745520-23745521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113343043	chr11:23745529-23745530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79794863	chr11:23745564-23745565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532157770	chr11:23745578-23745579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552229530	chr11:23745612-23745613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180722403	chr11:23745645-23745646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7480883	chr11:23745789-23745790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7114064	chr11:23745810-23745811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23742000-23754600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:23745400-23745600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:23745400-23745600	Enhancers	NH-A	brain
4	chr11:23745600-23748600	Weak transcription	NH-A	brain

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