Variant report

Variant	esv1813771
Chromosome Location	chr11:57756568-57767699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11512732	chr11:57756568-57756569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189402084	chr11:57756569-57756570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557293423	chr11:57756592-57756593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11512733	chr11:57756605-57756606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540109364	chr11:57756616-57756617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555220907	chr11:57756634-57756635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573913841	chr11:57756685-57756686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544071615	chr11:57756695-57756696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562704719	chr11:57756711-57756712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374043936	chr11:57756746-57756747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35163247	chr11:57756886-57756887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549631834	chr11:57756909-57756910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34243081	chr11:57756933-57756934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371624113	chr11:57756959-57756960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75695577	chr11:57756960-57756961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551607065	chr11:57756998-57756999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571512216	chr11:57757002-57757003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138317002	chr11:57757032-57757033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529641132	chr11:57757050-57757051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149622085	chr11:57757150-57757151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561566804	chr11:57757209-57757210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374618898	chr11:57757211-57757212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569446943	chr11:57757235-57757236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371132872	chr11:57757267-57757268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181822486	chr11:57757277-57757278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557453366	chr11:57757279-57757280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566259831	chr11:57757295-57757296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375220056	chr11:57757420-57757421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79470050	chr11:57757423-57757424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184624538	chr11:57757451-57757452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554986234	chr11:57757461-57757462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188887418	chr11:57757470-57757471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544503293	chr11:57757509-57757510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573276466	chr11:57757543-57757544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114852192	chr11:57757557-57757558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12799639	chr11:57757561-57757562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545249185	chr11:57757590-57757591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553220631	chr11:57757596-57757597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7108167	chr11:57757626-57757627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181406579	chr11:57757651-57757652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540627113	chr11:57757698-57757699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144329638	chr11:57757734-57757735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529522414	chr11:57757744-57757745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186324862	chr11:57757767-57757768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569326735	chr11:57757776-57757777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191226228	chr11:57757777-57757778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367824059	chr11:57757807-57757808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566220864	chr11:57757824-57757825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148342763	chr11:57757840-57757841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200609942	chr11:57757858-57757859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57749800-57758800	Weak transcription	HepG2	liver
2	chr11:57758800-57760000	Enhancers	HepG2	liver

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