Variant report

Variant	esv10740
Chromosome Location	chr11:26607958-26610913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12283008	chr11:26607989-26607990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550057766	chr11:26608050-26608051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10525849	chr11:26608051-26608052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546556423	chr11:26608072-26608073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564750665	chr11:26608081-26608082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528720315	chr11:26608089-26608090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7945253	chr11:26608113-26608114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566000007	chr11:26608135-26608136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539755187	chr11:26608136-26608137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529841710	chr11:26608157-26608158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558212085	chr11:26608164-26608165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547964666	chr11:26608173-26608174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139238800	chr11:26608194-26608195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536627993	chr11:26608195-26608196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552075931	chr11:26608209-26608210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7945396	chr11:26608211-26608212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534517533	chr11:26608233-26608234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553086059	chr11:26608235-26608236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113512263	chr11:26608240-26608241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147858787	chr11:26608260-26608261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150120067	chr11:26608261-26608262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs398115188	chr11:26608262-26608263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192211136	chr11:26608276-26608277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557159718	chr11:26608283-26608284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541192477	chr11:26608300-26608301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181824146	chr11:26608312-26608313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562680629	chr11:26608318-26608319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187046123	chr11:26608323-26608324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564787450	chr11:26608324-26608325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12284408	chr11:26608346-26608347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573528165	chr11:26608405-26608406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540565890	chr11:26608407-26608408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368225766	chr11:26608435-26608436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139940577	chr11:26608481-26608482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190494862	chr11:26608483-26608484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548294077	chr11:26608494-26608495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7945560	chr11:26608497-26608498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs577963048	chr11:26608498-26608499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551714720	chr11:26608544-26608545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182695126	chr11:26608615-26608616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187173797	chr11:26608762-26608763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17243468	chr11:26608776-26608777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73434344	chr11:26608801-26608802	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs293989	chr11:26608839-26608840	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs557454216	chr11:26608876-26608877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182782646	chr11:26608906-26608907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539852695	chr11:26608922-26608923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558227683	chr11:26609093-26609094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149855077	chr11:26609104-26609105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540953511	chr11:26609108-26609109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26600400-26643000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:26603800-26623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:26604000-26623600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:26605200-26608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:26606600-26608600	Weak transcription	NHEK	skin
6	chr11:26606800-26614600	Weak transcription	Placenta	Placenta
7	chr11:26607600-26635400	Weak transcription	Adipose Nuclei	Adipose
8	chr11:26608600-26609200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:26608600-26609200	Enhancers	NHEK	skin
10	chr11:26609200-26613800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:26610200-26610800	Enhancers	Fetal Lung	lung
12	chr11:26610600-26611200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:26610800-26619000	Weak transcription	Fetal Lung	lung

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