Variant report

Variant	esv17382
Chromosome Location	chr11:15523863-15525293
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	chr11:15519281..15521349-chr11:15523623..15525618,2	MCF-7	breast:
2	chr11:15262063..15264369-chr11:15524628..15526995,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202008946	chr11:15523901-15523902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148896114	chr11:15523912-15523913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143673324	chr11:15523922-15523923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550257555	chr11:15523958-15523959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568881347	chr11:15524013-15524014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375030940	chr11:15524027-15524028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536535999	chr11:15524037-15524038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183448062	chr11:15524087-15524088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554875170	chr11:15524129-15524130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566701086	chr11:15524162-15524163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534099343	chr11:15524163-15524164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567829432	chr11:15524178-15524179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71044062	chr11:15524179-15524180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16914840	chr11:15524229-15524230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576886682	chr11:15524237-15524238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544697157	chr11:15524268-15524269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556282821	chr11:15524302-15524303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186930652	chr11:15524340-15524341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142668387	chr11:15524350-15524351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149085749	chr11:15524351-15524352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200352846	chr11:15524353-15524354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191419932	chr11:15524357-15524358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376768543	chr11:15524360-15524361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535568301	chr11:15524361-15524362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71044063	chr11:15524362-15524363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12224507	chr11:15524363-15524364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113242699	chr11:15524366-15524367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112605445	chr11:15524368-15524369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200161630	chr11:15524370-15524371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201501553	chr11:15524372-15524373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528409628	chr11:15524374-15524375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540387847	chr11:15524377-15524378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565074441	chr11:15524386-15524387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71044064	chr11:15524388-15524389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563559571	chr11:15524401-15524402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369216887	chr11:15524412-15524413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7952543	chr11:15524413-15524414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7952544	chr11:15524415-15524416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367672741	chr11:15524416-15524417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10832457	chr11:15524417-15524418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118122647	chr11:15524443-15524444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368717476	chr11:15524509-15524510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147272653	chr11:15524543-15524544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12099353	chr11:15524609-15524610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187845191	chr11:15524621-15524622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527811272	chr11:15524653-15524654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552306617	chr11:15524821-15524822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114329241	chr11:15524836-15524837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560935371	chr11:15524848-15524849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537946465	chr11:15524874-15524875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	16608533	CNVD
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
Acute lymphoblastic leukemia	21980252	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15522400-15524800	Weak transcription	Fetal Intestine Small	intestine
2	chr11:15522800-15525200	Weak transcription	Placenta	Placenta
3	chr11:15523800-15524000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:15524000-15524400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:15524400-15525000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:15524600-15525800	Enhancers	Fetal Intestine Large	intestine
7	chr11:15524800-15525400	Enhancers	Fetal Intestine Small	intestine
8	chr11:15525200-15525600	Enhancers	Placenta	Placenta

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