Variant report

Variant	esv11328
Chromosome Location	chr11:93638553-93641193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546104364	chr11:93638555-93638556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs8181533	chr11:93638614-93638615	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187068544	chr11:93638633-93638634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113527680	chr11:93638643-93638644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561849953	chr11:93638666-93638667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs8181530	chr11:93638678-93638679	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547488535	chr11:93638738-93638739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7101447	chr11:93638758-93638759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191117084	chr11:93638787-93638788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183624652	chr11:93638788-93638789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570354373	chr11:93638793-93638794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138668742	chr11:93638804-93638805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571197963	chr11:93638866-93638867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555953169	chr11:93638914-93638915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112104788	chr11:93638920-93638921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553743670	chr11:93638960-93638961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7101791	chr11:93638998-93638999	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553561901	chr11:93639048-93639049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572052208	chr11:93639054-93639055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558634583	chr11:93639071-93639072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377342269	chr11:93639113-93639114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12270580	chr11:93639122-93639123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575885183	chr11:93639144-93639145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112663235	chr11:93639155-93639156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12788325	chr11:93639156-93639157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529038076	chr11:93639159-93639160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150698141	chr11:93639174-93639175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1546400	chr11:93639203-93639204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369134689	chr11:93639205-93639206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372880075	chr11:93639235-93639236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533405605	chr11:93639241-93639242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551447859	chr11:93639261-93639262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570370363	chr11:93639300-93639301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1395387	chr11:93639307-93639308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs1395386	chr11:93639331-93639332	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs563125594	chr11:93639354-93639355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138957776	chr11:93639356-93639357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111517969	chr11:93639378-93639379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190614927	chr11:93639409-93639410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367722278	chr11:93639415-93639416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149426079	chr11:93639435-93639436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565595318	chr11:93639443-93639444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144812808	chr11:93639485-93639486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557301892	chr11:93639509-93639510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116099778	chr11:93639532-93639533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536982249	chr11:93639600-93639601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367986892	chr11:93639616-93639617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573827546	chr11:93639702-93639703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540860033	chr11:93639716-93639717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373898123	chr11:93639728-93639729	Weak transcription Enhancers	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
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93636400-93639600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:93637000-93638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93637400-93641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:93638200-93639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:93638400-93638800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:93638400-93639000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:93638400-93639000	Enhancers	HepG2	liver
8	chr11:93638400-93639000	Enhancers	NHEK	skin
9	chr11:93638400-93639000	Enhancers	Osteobl	bone
10	chr11:93638400-93639200	Enhancers	Placenta	Placenta
11	chr11:93638400-93639200	Enhancers	HSMM	muscle
12	chr11:93638400-93640200	Enhancers	NH-A	brain
13	chr11:93638400-93640400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:93638400-93640600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:93638400-93643000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:93638600-93639000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:93638600-93639200	Enhancers	HSMMtube	muscle
18	chr11:93638600-93640200	Enhancers	NHDF-Ad	bronchial
19	chr11:93638600-93642600	Enhancers	HMEC	breast
20	chr11:93638800-93639600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:93639000-93641200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:93639000-93641200	Weak transcription	NHEK	skin
23	chr11:93639000-93641400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:93639000-93641400	Weak transcription	Osteobl	bone
25	chr11:93639200-93640600	Weak transcription	HSMM	muscle
26	chr11:93639200-93641200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:93639200-93641200	Weak transcription	Placenta	Placenta
28	chr11:93639200-93641200	Weak transcription	HSMMtube	muscle
29	chr11:93639400-93640600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:93639600-93640400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:93639600-93642800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:93640000-93640400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:93640200-93641200	Weak transcription	NHDF-Ad	bronchial
34	chr11:93640200-93641400	Weak transcription	NH-A	brain
35	chr11:93640400-93641400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:93640400-93641400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:93640400-93641400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:93640600-93641000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:93640600-93641000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:93640600-93641000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr11:93640600-93641600	Enhancers	HSMM	muscle
42	chr11:93641000-93641200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
43	chr11:93641000-93641400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:93641000-93642000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:93641000-93642600	Enhancers	Muscle Satellite Cultured Cells	--

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