Variant report

Variant	esv3468875
Chromosome Location	chr11:17661192-17661565
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	chr11:17661202..17663655-chr11:17664754..17666769,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 52 )

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	rs573206076	chr11:17661195-17661196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534057059	chr11:17661222-17661223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558539524	chr11:17661234-17661235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72871854	chr11:17661262-17661263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56135704	chr11:17661295-17661296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184628947	chr11:17661338-17661339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28534397	chr11:17661363-17661364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563855121	chr11:17661371-17661372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28572688	chr11:17661373-17661374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575326595	chr11:17661394-17661395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542647470	chr11:17661400-17661401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115711199	chr11:17661419-17661420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7943980	chr11:17661431-17661432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9666496	chr11:17661443-17661444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368844340	chr11:17661449-17661450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7943990	chr11:17661455-17661456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35571511	chr11:17661463-17661464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150678636	chr11:17661465-17661466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11024354	chr11:17661504-17661505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370490006	chr11:17661510-17661511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113906216	chr11:17661513-17661514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199694886	chr11:17661518-17661519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375493570	chr11:17661523-17661524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77235072	chr11:17661549-17661550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186589662	chr11:17661558-17661559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532742595	chr11:17661564-17661565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
small cell lung cancer	20016488	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	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17653800-17668600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:17655600-17666800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:17661200-17661400	Enhancers	Skeletal Muscle Male	skeletal muscle

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