Variant report

Variant	esv2752861
Chromosome Location	chr11:106216510-106245491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:106220863..106222409-chr11:106235880..106237931,2	K562	blood:
2	chr11:106220863..106222409-chr11:106235880..106237931,2	K562	blood:
3	chr11:106197475..106199987-chr11:106225998..106227793,2	K562	blood:

Extended variants
information (count: 344 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10750754	chr11:106216510-106216511	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556215638	chr11:106216536-106216537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578060787	chr11:106216603-106216604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145537860	chr11:106216618-106216619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560258656	chr11:106216626-106216627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572406014	chr11:106216681-106216682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543302362	chr11:106216692-106216693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377662625	chr11:106216762-106216763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148978559	chr11:106216774-106216775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142941028	chr11:106216785-106216786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368141245	chr11:106232670-106232671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575218803	chr11:106232683-106232684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78352955	chr11:106232684-106232685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554703345	chr11:106232731-106232732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180685667	chr11:106232823-106232824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371583192	chr11:106232829-106232830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1512432	chr11:106232838-106232839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540933063	chr11:106232869-106232870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34239100	chr11:106232878-106232879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562136949	chr11:106232907-106232908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529517075	chr11:106232930-106232931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547958603	chr11:106232983-106232984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569731191	chr11:106233054-106233055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368260742	chr11:106233091-106233092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs618453	chr11:106233094-106233095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs185727145	chr11:106233108-106233109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534603397	chr11:106233147-106233148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17105612	chr11:106233170-106233171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190252759	chr11:106233242-106233243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375521631	chr11:106233272-106233273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535675457	chr11:106233279-106233280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113761905	chr11:106233321-106233322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575309709	chr11:106233326-106233327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113782792	chr11:106233340-106233341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59277160	chr11:106233341-106233342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398045525	chr11:106233353-106233354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78395404	chr11:106233354-106233355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs500826	chr11:106233394-106233395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371919582	chr11:106233397-106233398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374805388	chr11:106233455-106233456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191110965	chr11:106233463-106233464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557692017	chr11:106233488-106233489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573232102	chr11:106233530-106233531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182071878	chr11:106233550-106233551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562438072	chr11:106233588-106233589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111350593	chr11:106233637-106233638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544761283	chr11:106233690-106233691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563076793	chr11:106233719-106233720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538969226	chr11:106233720-106233721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530580731	chr11:106233734-106233735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106216400-106216800	Enhancers	Fetal Brain Male	brain
2	chr11:106232600-106235400	Weak transcription	Pancreas	Pancrea
3	chr11:106234600-106235600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:106235600-106239000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:106237600-106240200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:106237600-106240600	Enhancers	NHEK	skin
7	chr11:106238000-106240200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:106238400-106241200	Enhancers	NHDF-Ad	bronchial
9	chr11:106238600-106239200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:106238600-106240600	Enhancers	HMEC	breast
11	chr11:106238600-106240800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:106238600-106241200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:106238800-106239200	Enhancers	NH-A	brain
14	chr11:106238800-106239400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:106238800-106240600	Enhancers	NHLF	lung
16	chr11:106239000-106240200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:106239000-106240400	Enhancers	Osteobl	bone
18	chr11:106239200-106239600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:106239200-106239600	Flanking Active TSS	NH-A	brain
20	chr11:106239200-106239800	Enhancers	HSMM	muscle
21	chr11:106239200-106240200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:106239200-106240400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:106239200-106240600	Enhancers	A549	lung
24	chr11:106239400-106239800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:106239600-106240400	Enhancers	NH-A	brain
26	chr11:106239600-106241400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:106240200-106240800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:106240800-106241000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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