Variant report

Variant	esv3478853
Chromosome Location	chr11:100484903-100486932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100483839..100486861-chr11:100501831..100504334,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375805386	chr11:100486018-100486019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186509214	chr11:100486066-100486067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56382640	chr11:100486085-100486086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190231612	chr11:100486123-100486124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563559828	chr11:100486134-100486135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67658352	chr11:100486135-100486136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs59382668	chr11:100486136-100486137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555863034	chr11:100486161-100486162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527455752	chr11:100486181-100486182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144972889	chr11:100486249-100486250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149060164	chr11:100486294-100486295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533087212	chr11:100486419-100486420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78936849	chr11:100486469-100486470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538195471	chr11:100486536-100486537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569593223	chr11:100486553-100486554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556389867	chr11:100486561-100486562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535444555	chr11:100486574-100486575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548759314	chr11:100486608-100486609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565799502	chr11:100486623-100486624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs601727	chr11:100486632-100486633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558420991	chr11:100486643-100486644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578244112	chr11:100486693-100486694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2937963	chr11:100486698-100486699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114933469	chr11:100486707-100486708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573910239	chr11:100486715-100486716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144639380	chr11:100486723-100486724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189650604	chr11:100486725-100486726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34813335	chr11:100486765-100486766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs55794566	chr11:100486803-100486804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76267993	chr11:100486817-100486818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61908671	chr11:100486819-100486820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1216525	chr11:100486827-100486828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs372985553	chr11:100486829-100486830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572669067	chr11:100486879-100486880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373036142	chr11:100486931-100486932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	22183965	CNVD
Melanoma	22183965	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
Myelofibrosis	22110671	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
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100486000-100490200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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