Variant report

Variant	esv3415705
Chromosome Location	chr11:57815226-57818824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531130228	chr11:57815230-57815231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552317022	chr11:57815292-57815293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143369703	chr11:57815297-57815298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150933736	chr11:57815326-57815327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370165297	chr11:57815436-57815437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187283483	chr11:57815453-57815454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535470206	chr11:57815476-57815477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2443451	chr11:57815547-57815548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575583702	chr11:57815561-57815562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539762068	chr11:57815593-57815594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191752637	chr11:57815600-57815601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573038419	chr11:57815609-57815610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541154470	chr11:57815617-57815618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115231613	chr11:57815682-57815683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574720055	chr11:57815710-57815711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541791824	chr11:57815713-57815714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563356544	chr11:57815762-57815763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2514191	chr11:57815775-57815776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552456340	chr11:57815839-57815840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564521609	chr11:57815874-57815875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528725792	chr11:57815880-57815881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34300518	chr11:57815896-57815897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7111942	chr11:57815907-57815908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7952724	chr11:57815920-57815921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182480042	chr11:57815953-57815954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550562227	chr11:57815959-57815960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11335783	chr11:57815969-57815970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76819805	chr11:57815984-57815985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541304076	chr11:57815991-57815992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371775232	chr11:57816008-57816009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539740086	chr11:57816017-57816018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558121392	chr11:57816056-57816057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572934183	chr11:57816080-57816081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7113076	chr11:57816085-57816086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369007273	chr11:57816142-57816143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199746759	chr11:57816148-57816149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71460552	chr11:57816149-57816150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57948007	chr11:57816151-57816152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555294385	chr11:57816166-57816167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111281597	chr11:57816168-57816169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192709048	chr11:57816213-57816214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34011141	chr11:57816244-57816245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563297255	chr11:57816265-57816266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7112430	chr11:57816266-57816267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367850982	chr11:57816524-57816525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113224230	chr11:57816716-57816717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200709673	chr11:57816768-57816769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112343940	chr11:57816774-57816775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61904014	chr11:57816836-57816837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112466808	chr11:57816856-57816857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57813600-57825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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