Variant report

Variant	esv3385488
Chromosome Location	chr11:93676082-93676507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541457446	chr11:93676098-93676099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531535909	chr11:93676114-93676115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370525799	chr11:93676119-93676120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377384444	chr11:93676134-93676135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183790547	chr11:93676139-93676140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113037985	chr11:93676150-93676151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552029227	chr11:93676162-93676163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564318132	chr11:93676166-93676167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2056247	chr11:93676224-93676225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs550272694	chr11:93676225-93676226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72962837	chr11:93676262-93676263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146787381	chr11:93676269-93676270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567312400	chr11:93676300-93676301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547852327	chr11:93676301-93676302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566077117	chr11:93676338-93676339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs68019383	chr11:93676398-93676399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558132691	chr11:93676416-93676417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140466763	chr11:93676457-93676458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112972244	chr11:93676476-93676477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1356566	chr11:93676487-93676488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574486243	chr11:93676504-93676505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182251481	chr11:93676505-93676506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144156995	chr11:93676507-93676508	Weak transcription	n/a	n/a	Overlapped CNVs	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93675400-93678600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:93675600-93678400	Weak transcription	HMEC	breast
3	chr11:93675600-93678600	Weak transcription	NHEK	skin

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