Variant report

Variant	esv3431514
Chromosome Location	chr11:106021392-106023690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548181554	chr11:106022680-106022681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138680447	chr11:106022787-106022788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537303405	chr11:106022807-106022808	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs578243103	chr11:106022888-106022889	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs552181518	chr11:106022913-106022914	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570771349	chr11:106022940-106022941	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs534497614	chr11:106022972-106022973	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192708519	chr11:106022975-106022976	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553475850	chr11:106023062-106023063	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535555180	chr11:106023064-106023065	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs183152495	chr11:106023065-106023066	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556894966	chr11:106023154-106023155	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs117127315	chr11:106023184-106023185	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546226008	chr11:106023210-106023211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567865510	chr11:106023229-106023230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536309317	chr11:106023270-106023271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558142827	chr11:106023335-106023336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573513927	chr11:106023366-106023367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540435274	chr11:106023376-106023377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140261854	chr11:106023416-106023417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1940768	chr11:106023422-106023423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75317144	chr11:106023428-106023429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113942421	chr11:106023485-106023486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527699216	chr11:106023547-106023548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191215046	chr11:106023582-106023583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552178453	chr11:106023597-106023598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138199365	chr11:106023604-106023605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560996165	chr11:106023632-106023633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528402762	chr11:106023663-106023664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106022600-106022800	Enhancers	HMEC	breast
2	chr11:106022600-106023800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:106022600-106023800	Enhancers	NH-A	brain
4	chr11:106022600-106024000	Enhancers	NHEK	skin
5	chr11:106022800-106023000	Bivalent Enhancer	Small Intestine	intestine
6	chr11:106022800-106023200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:106022800-106023200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:106022800-106023200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:106022800-106023200	Enhancers	Esophagus	oesophagus
10	chr11:106022800-106023200	Enhancers	Ovary	ovary
11	chr11:106022800-106023200	Enhancers	Pancreas	Pancrea
12	chr11:106022800-106023200	Enhancers	Stomach Smooth Muscle	stomach
13	chr11:106022800-106023200	Flanking Active TSS	HMEC	breast
14	chr11:106022800-106023200	Enhancers	Osteobl	bone
15	chr11:106022800-106023400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:106022800-106023400	Enhancers	Placenta	Placenta
17	chr11:106022800-106023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:106022800-106024000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:106022800-106024000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:106022800-106024200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:106022800-106024200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:106022800-106025200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:106023000-106024600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:106023000-106024800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:106023200-106024200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:106023200-106025000	Enhancers	HMEC	breast
27	chr11:106023200-106031000	Weak transcription	Osteobl	bone
28	chr11:106023200-106031200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:106023600-106027200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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