Variant report

Variant	esv3354123
Chromosome Location	chr11:121807392-121809440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143165289	chr11:121807406-121807407	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs11218467	chr11:121807408-121807409	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188778422	chr11:121807458-121807459	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs7925712	chr11:121807504-121807505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115735073	chr11:121807519-121807520	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556707273	chr11:121807526-121807527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11218468	chr11:121807552-121807553	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542096177	chr11:121807586-121807587	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs1219449	chr11:121807606-121807607	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181559007	chr11:121807607-121807608	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145078289	chr11:121807612-121807613	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs138866248	chr11:121807697-121807698	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376325507	chr11:121807703-121807704	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542016156	chr11:121807711-121807712	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543190225	chr11:121807722-121807723	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562508402	chr11:121807758-121807759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1219450	chr11:121807772-121807773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547630636	chr11:121807828-121807829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200340087	chr11:121807842-121807843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149866333	chr11:121807846-121807847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200683671	chr11:121807847-121807848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141445288	chr11:121807882-121807883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540236939	chr11:121807891-121807892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150458794	chr11:121807950-121807951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551505852	chr11:121807973-121807974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7926019	chr11:121807981-121807982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570796686	chr11:121807984-121807985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1219451	chr11:121808024-121808025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1219452	chr11:121808030-121808031	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368282357	chr11:121808043-121808044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186044739	chr11:121808065-121808066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190060891	chr11:121808101-121808102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539645503	chr11:121808109-121808110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371239625	chr11:121808167-121808168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147592489	chr11:121808175-121808176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111522624	chr11:121808178-121808179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59398969	chr11:121808191-121808192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1219453	chr11:121808192-121808193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71469947	chr11:121808193-121808194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369310109	chr11:121808194-121808195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71054021	chr11:121808204-121808205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61325358	chr11:121808205-121808206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111672072	chr11:121808206-121808207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12277688	chr11:121808228-121808229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12277695	chr11:121808258-121808259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2922253	chr11:121808270-121808271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12277699	chr11:121808283-121808284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs66540113	chr11:121808295-121808296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575983650	chr11:121808299-121808300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563824637	chr11:121808319-121808320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121801400-121813000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:121803800-121807400	Weak transcription	Liver	Liver
3	chr11:121804000-121808800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:121805800-121807400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:121805800-121809200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:121805800-121809200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:121805800-121809400	Enhancers	HMEC	breast
8	chr11:121806000-121809600	Enhancers	NHDF-Ad	bronchial
9	chr11:121806400-121809200	Enhancers	Osteobl	bone
10	chr11:121806400-121809400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:121806600-121807400	Enhancers	NHLF	lung
12	chr11:121806600-121808000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:121806600-121809800	Enhancers	NHEK	skin
14	chr11:121806800-121807400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:121807000-121807400	Enhancers	NH-A	brain
16	chr11:121807000-121807800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:121807000-121807800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr11:121807000-121807800	Enhancers	Psoas Muscle	Psoas
19	chr11:121807000-121807800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:121807000-121807800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:121807000-121808000	Enhancers	HSMM	muscle
22	chr11:121807000-121809600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:121807200-121807400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:121807200-121807600	Enhancers	HepG2	liver
25	chr11:121807200-121807800	Enhancers	HSMMtube	muscle
26	chr11:121807200-121808800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:121807400-121807800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:121807400-121807800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:121807400-121807800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:121807400-121807800	Flanking Active TSS	NH-A	brain
31	chr11:121807400-121807800	Flanking Active TSS	NHLF	lung
32	chr11:121807400-121808000	Enhancers	Liver	Liver
33	chr11:121807800-121808000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:121807800-121809000	Enhancers	NH-A	brain
35	chr11:121807800-121809000	Enhancers	NHLF	lung
36	chr11:121807800-121809200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:121807800-121809600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:121807800-121812600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:121808000-121808400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:121808400-121809600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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