Variant report

Variant	esv1810883
Chromosome Location	chr11:23547384-23554704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16911459	chr11:23547384-23547385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185935093	chr11:23547435-23547436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190638058	chr11:23547443-23547444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534197021	chr11:23547449-23547450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72879159	chr11:23547523-23547524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140668265	chr11:23547533-23547534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546054026	chr11:23547572-23547573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147889725	chr11:23547576-23547577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79065242	chr11:23547579-23547580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578060259	chr11:23547608-23547609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143800851	chr11:23547620-23547621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73427993	chr11:23547631-23547632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533466428	chr11:23547632-23547633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11821801	chr11:23547649-23547650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11027282	chr11:23547663-23547664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527312786	chr11:23547688-23547689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541043051	chr11:23547722-23547723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529875167	chr11:23547731-23547732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564197497	chr11:23547735-23547736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533258080	chr11:23547752-23547753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548439359	chr11:23547766-23547767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200594625	chr11:23547775-23547776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112483138	chr11:23547776-23547777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200683992	chr11:23547779-23547780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35580719	chr11:23547781-23547782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569871574	chr11:23547782-23547783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531687011	chr11:23547785-23547786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112577443	chr11:23547890-23547891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548301467	chr11:23547896-23547897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370233678	chr11:23547912-23547913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568100304	chr11:23547940-23547941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533901845	chr11:23547974-23547975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114504022	chr11:23548069-23548070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11027283	chr11:23548072-23548073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs12788748	chr11:23548102-23548103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556471989	chr11:23548148-23548149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543563543	chr11:23548222-23548223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79698263	chr11:23548234-23548235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571176497	chr11:23548288-23548289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12365071	chr11:23548313-23548314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556918219	chr11:23548388-23548389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11027284	chr11:23548446-23548447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540622382	chr11:23548465-23548466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115267930	chr11:23548499-23548500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577848091	chr11:23548527-23548528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543745620	chr11:23548547-23548548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563117980	chr11:23548552-23548553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186481232	chr11:23548586-23548587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191315430	chr11:23548597-23548598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548784273	chr11:23548646-23548647	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
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	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23541200-23548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:23548600-23549200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:23548800-23549400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:23549000-23549400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:23549000-23549400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr11:23550600-23551000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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