Variant report

Variant	esv9614
Chromosome Location	chr11:48351372-48352290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75848264	chr11:48351404-48351405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75520829	chr11:48351415-48351416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536555812	chr11:48351426-48351427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75051439	chr11:48351429-48351430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375771390	chr11:48351439-48351440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566675738	chr11:48351443-48351444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538490894	chr11:48351446-48351447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80256601	chr11:48351456-48351457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79886070	chr11:48351458-48351459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146463725	chr11:48351484-48351485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200431932	chr11:48351490-48351491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558698016	chr11:48351501-48351502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575043956	chr11:48351505-48351506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs67324944	chr11:48351518-48351519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs66976306	chr11:48351533-48351534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72911488	chr11:48351554-48351555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72911490	chr11:48351561-48351562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576898565	chr11:48351587-48351588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72911491	chr11:48351598-48351599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72911493	chr11:48351608-48351609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146175233	chr11:48351613-48351614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148196602	chr11:48351639-48351640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367763323	chr11:48351643-48351644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371572858	chr11:48351646-48351647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185880523	chr11:48351668-48351669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560653790	chr11:48351690-48351691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188122072	chr11:48351707-48351708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113466109	chr11:48351737-48351738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563061625	chr11:48351744-48351745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185350844	chr11:48351751-48351752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188605592	chr11:48351761-48351762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112193992	chr11:48351765-48351766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186650049	chr11:48351795-48351796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192063873	chr11:48351806-48351807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562157985	chr11:48351836-48351837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566681617	chr11:48351871-48351872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538922042	chr11:48351874-48351875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552095463	chr11:48351893-48351894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11039683	chr11:48351898-48351899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182053377	chr11:48351927-48351928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554208745	chr11:48351943-48351944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574176958	chr11:48351964-48351965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533577641	chr11:48351967-48351968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553723351	chr11:48351995-48351996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577505524	chr11:48352009-48352010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367860907	chr11:48352011-48352012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113090564	chr11:48352031-48352032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532540697	chr11:48352060-48352061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143862961	chr11:48352074-48352075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542360726	chr11:48352091-48352092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	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
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48350000-48355600	Weak transcription	Stomach Mucosa	stomach

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