Variant report

Variant	nsv553901
Chromosome Location	chr11:26608497-26611796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7945560	chr11:26608497-26608498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577963048	chr11:26608498-26608499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551714720	chr11:26608544-26608545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182695126	chr11:26608615-26608616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187173797	chr11:26608762-26608763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17243468	chr11:26608776-26608777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73434344	chr11:26608801-26608802	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs293989	chr11:26608839-26608840	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557454216	chr11:26608876-26608877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182782646	chr11:26608906-26608907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539852695	chr11:26608922-26608923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558227683	chr11:26609093-26609094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149855077	chr11:26609104-26609105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540953511	chr11:26609108-26609109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs293988	chr11:26609149-26609150	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188890128	chr11:26609175-26609176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116150021	chr11:26609180-26609181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193275821	chr11:26609203-26609204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563051087	chr11:26609221-26609222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115134594	chr11:26609231-26609232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545492336	chr11:26609232-26609233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147968220	chr11:26609238-26609239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140081310	chr11:26609319-26609320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112508998	chr11:26609348-26609349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546901875	chr11:26609352-26609353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568238727	chr11:26609377-26609378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529103833	chr11:26609400-26609401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576537769	chr11:26609404-26609405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543480310	chr11:26609443-26609444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370381866	chr11:26609485-26609486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11029624	chr11:26609534-26609535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558264527	chr11:26609567-26609568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs293987	chr11:26609575-26609576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185427734	chr11:26609579-26609580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7105666	chr11:26609620-26609621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112721189	chr11:26609659-26609660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187417979	chr11:26609775-26609776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191882039	chr11:26609783-26609784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71480128	chr11:26609799-26609800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115827553	chr11:26609833-26609834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12293497	chr11:26609856-26609857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563817333	chr11:26609877-26609878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11426751	chr11:26609881-26609882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397793702	chr11:26609883-26609884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77464576	chr11:26609884-26609885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74844201	chr11:26609889-26609890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528113380	chr11:26609911-26609912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539815809	chr11:26609938-26609939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76051310	chr11:26609970-26609971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552032695	chr11:26610049-26610050	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:14 , 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
14	chr11:26611200-26611600	Enhancers	HepG2	liver

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