Variant report

Variant	esv3378775
Chromosome Location	chr11:104765893-104766072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373144215	chr11:104765904-104765905	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs146806045	chr11:104765968-104765969	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs386757101	chr11:104765994-104765995	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368135246	chr11:104766000-104766001	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs199643668	chr11:104766017-104766018	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs200519745	chr11:104766018-104766019	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs201026669	chr11:104766022-104766023	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572826673	chr11:104766057-104766058	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73629673	chr11:104766061-104766062	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558435837	chr11:104766066-104766067	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
low-grade B-cell lymphoma tumor	18367492	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
Melanoma	17363583	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
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104745600-104768600	Weak transcription	Left Ventricle	heart
2	chr11:104752800-104766200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:104754400-104768600	Weak transcription	Pancreas	Pancrea
4	chr11:104759800-104768600	Weak transcription	Lung	lung
5	chr11:104762200-104768600	Weak transcription	Psoas Muscle	Psoas
6	chr11:104763800-104769000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:104764000-104766400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:104764200-104766400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:104764200-104768600	Weak transcription	Fetal Lung	lung
10	chr11:104764200-104768800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:104764400-104768400	Weak transcription	NHDF-Ad	bronchial
12	chr11:104764600-104766400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:104764800-104766600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr11:104764800-104768400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:104764800-104769000	Weak transcription	NHLF	lung
16	chr11:104765000-104766000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:104765000-104766400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:104765000-104767200	Enhancers	Adipose Nuclei	Adipose
19	chr11:104765200-104766400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr11:104765200-104766400	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:104765200-104766600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:104765200-104767200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr11:104765400-104767000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:104765400-104767400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:104765600-104766000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:104765600-104767200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:104765600-104769800	Active TSS	Aorta	Aorta
28	chr11:104765800-104766200	Weak transcription	HUVEC	blood vessel
29	chr11:104765800-104766600	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:104765800-104766600	Active TSS	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links