Variant report

Variant	esv3380895
Chromosome Location	chr11:45473822-45474393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141150249	chr11:45473829-45473830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs56713024	chr11:45473837-45473838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572920468	chr11:45473851-45473852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371723997	chr11:45473852-45473853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376303966	chr11:45473880-45473881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56214946	chr11:45473897-45473898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560334130	chr11:45473922-45473923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368418631	chr11:45473930-45473931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577174207	chr11:45474016-45474017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189153216	chr11:45474021-45474022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563015757	chr11:45474031-45474032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531915047	chr11:45474033-45474034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548827910	chr11:45474036-45474037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182548646	chr11:45474056-45474057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149472147	chr11:45474059-45474060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562068034	chr11:45474063-45474064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548072804	chr11:45474106-45474107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143951496	chr11:45474151-45474152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114787964	chr11:45474158-45474159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551956454	chr11:45474175-45474176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185392620	chr11:45474218-45474219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138447164	chr11:45474219-45474220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554382110	chr11:45474245-45474246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568013351	chr11:45474275-45474276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533793534	chr11:45474295-45474296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545063000	chr11:45474320-45474321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558632591	chr11:45474342-45474343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	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
Prostate cancer	18632612	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45466600-45474200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:45472200-45477000	Weak transcription	Right Atrium	heart
3	chr11:45472400-45474000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:45473600-45478600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:45474200-45474400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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