Variant report

Variant	esv18668
Chromosome Location	chr11:57755622-57761480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182930333	chr11:57755641-57755642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571157820	chr11:57755716-57755717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71454305	chr11:57755721-57755722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374190836	chr11:57755724-57755725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535339074	chr11:57755797-57755798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556495247	chr11:57755832-57755833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187270734	chr11:57755858-57755859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191680791	chr11:57755863-57755864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55920028	chr11:57755898-57755899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556757386	chr11:57755912-57755913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542875107	chr11:57755956-57755957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559413299	chr11:57755999-57756000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545474227	chr11:57756000-57756001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373636595	chr11:57756008-57756009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184577212	chr11:57756041-57756042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572756955	chr11:57756042-57756043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140891936	chr11:57756062-57756063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188026238	chr11:57756117-57756118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529099240	chr11:57756131-57756132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150159460	chr11:57756179-57756180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572976567	chr11:57756183-57756184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563617080	chr11:57756262-57756263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192303195	chr11:57756290-57756291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544913289	chr11:57756332-57756333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552240749	chr11:57756361-57756362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570867237	chr11:57756375-57756376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535300641	chr11:57756391-57756392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11512731	chr11:57756402-57756403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs568795254	chr11:57756475-57756476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535654957	chr11:57756486-57756487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557239308	chr11:57756494-57756495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533417597	chr11:57756519-57756520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371547681	chr11:57756542-57756543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185792827	chr11:57756567-57756568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11512732	chr11:57756568-57756569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs189402084	chr11:57756569-57756570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557293423	chr11:57756592-57756593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11512733	chr11:57756605-57756606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540109364	chr11:57756616-57756617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555220907	chr11:57756634-57756635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573913841	chr11:57756685-57756686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544071615	chr11:57756695-57756696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562704719	chr11:57756711-57756712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374043936	chr11:57756746-57756747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35163247	chr11:57756886-57756887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549631834	chr11:57756909-57756910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34243081	chr11:57756933-57756934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs371624113	chr11:57756959-57756960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75695577	chr11:57756960-57756961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551607065	chr11:57756998-57756999	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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