Variant report

Variant	esv2051843
Chromosome Location	chr11:16468285-16468764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190963086	chr11:16468332-16468333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140461003	chr11:16468347-16468348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367613188	chr11:16468348-16468349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376928254	chr11:16468349-16468350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35091148	chr11:16468350-16468351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564362989	chr11:16468363-16468364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16933117	chr11:16468395-16468396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183154177	chr11:16468414-16468415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201183195	chr11:16468420-16468421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372437039	chr11:16468430-16468431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529029341	chr11:16468431-16468432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35012904	chr11:16468440-16468441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191926111	chr11:16468447-16468448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569300847	chr11:16468452-16468453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373479376	chr11:16468456-16468457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79693621	chr11:16468469-16468470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530203818	chr11:16468475-16468476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71484717	chr11:16468478-16468479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79024746	chr11:16468479-16468480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547602811	chr11:16468483-16468484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143914156	chr11:16468494-16468495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61881792	chr11:16468495-16468496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59995638	chr11:16468500-16468501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12788127	chr11:16468509-16468510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28665016	chr11:16468510-16468511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56681594	chr11:16468514-16468515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28447612	chr11:16468515-16468516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367990752	chr11:16468516-16468517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202039351	chr11:16468518-16468519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61881793	chr11:16468525-16468526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57544208	chr11:16468528-16468529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375626180	chr11:16468532-16468533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28534021	chr11:16468533-16468534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370221065	chr11:16468534-16468535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61881794	chr11:16468536-16468537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112469142	chr11:16468537-16468538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61881795	chr11:16468539-16468540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113700232	chr11:16468543-16468544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61881796	chr11:16468545-16468546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147745140	chr11:16468553-16468554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61881797	chr11:16468556-16468557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61881798	chr11:16468558-16468559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs61881799	chr11:16468562-16468563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185237498	chr11:16468615-16468616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558925304	chr11:16468672-16468673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs16933119	chr11:16468688-16468689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188154622	chr11:16468720-16468721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555723533	chr11:16468730-16468731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16461600-16491200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:16461600-16510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:16461800-16478000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:16464800-16491000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:16467800-16469400	Weak transcription	Fetal Heart	heart

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