Variant report

Variant	esv16352
Chromosome Location	chr11:93640235-93640796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10765641	chr11:93640312-93640313	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372320169	chr11:93640350-93640351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10765642	chr11:93640355-93640356	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs578062650	chr11:93640364-93640365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545556182	chr11:93640384-93640385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115108364	chr11:93640392-93640393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575746745	chr11:93640396-93640397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10831138	chr11:93640468-93640469	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561627282	chr11:93640496-93640497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6483278	chr11:93640502-93640503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10831139	chr11:93640537-93640538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7932290	chr11:93640598-93640599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs7935230	chr11:93640603-93640604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10831140	chr11:93640689-93640690	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569403096	chr11:93640705-93640706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540178687	chr11:93640722-93640723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10831141	chr11:93640728-93640729	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548523844	chr11:93640752-93640753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10831142	chr11:93640781-93640782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93637400-93641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr11:93638400-93640400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:93638400-93640600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:93638400-93643000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:93638600-93642600	Enhancers	HMEC	breast
6	chr11:93639000-93641200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:93639000-93641200	Weak transcription	NHEK	skin
8	chr11:93639000-93641400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:93639000-93641400	Weak transcription	Osteobl	bone
10	chr11:93639200-93640600	Weak transcription	HSMM	muscle
11	chr11:93639200-93641200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:93639200-93641200	Weak transcription	Placenta	Placenta
13	chr11:93639200-93641200	Weak transcription	HSMMtube	muscle
14	chr11:93639400-93640600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:93639600-93640400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:93639600-93642800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:93640000-93640400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:93640200-93641200	Weak transcription	NHDF-Ad	bronchial
19	chr11:93640200-93641400	Weak transcription	NH-A	brain
20	chr11:93640400-93641400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:93640400-93641400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:93640400-93641400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:93640600-93641000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:93640600-93641000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:93640600-93641000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr11:93640600-93641600	Enhancers	HSMM	muscle

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