Variant report

Variant	esv1836819
Chromosome Location	chr11:24435202-24452026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 435 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4307720	chr11:24435202-24435203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150141887	chr11:24435226-24435227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528283661	chr11:24435288-24435289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539910756	chr11:24435308-24435309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191977780	chr11:24435318-24435319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185357094	chr11:24435324-24435325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189808254	chr11:24435331-24435332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532091778	chr11:24435352-24435353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548768519	chr11:24435357-24435358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201035337	chr11:24435396-24435397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565580326	chr11:24435399-24435400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112751610	chr11:24435428-24435429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375123743	chr11:24435544-24435545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369224687	chr11:24435568-24435569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571436043	chr11:24435593-24435594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537068156	chr11:24435607-24435608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138647659	chr11:24435611-24435612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200744110	chr11:24435626-24435627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2403929	chr11:24435629-24435630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548915320	chr11:24435688-24435689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368581967	chr11:24435711-24435712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537204370	chr11:24435749-24435750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372172059	chr11:24435779-24435780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184365107	chr11:24435793-24435794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16912548	chr11:24435797-24435798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140419391	chr11:24435818-24435819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564801699	chr11:24435840-24435841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145595092	chr11:24435881-24435882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188035483	chr11:24435891-24435892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371088681	chr11:24435914-24435915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555551715	chr11:24435932-24435933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570851631	chr11:24435934-24435935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563487203	chr11:24435947-24435948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138105590	chr11:24435951-24435952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549113973	chr11:24435968-24435969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565815515	chr11:24435990-24435991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538384961	chr11:24436012-24436013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551127357	chr11:24436014-24436015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11027885	chr11:24436022-24436023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536903817	chr11:24436037-24436038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59296326	chr11:24436041-24436042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374622753	chr11:24436057-24436058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576475765	chr11:24436058-24436059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200555016	chr11:24436059-24436060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563039498	chr11:24436060-24436061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60679769	chr11:24436062-24436063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61875434	chr11:24436063-24436064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34727201	chr11:24436064-24436065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556928048	chr11:24436073-24436074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149469940	chr11:24436098-24436099	Weak transcription	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
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
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24431400-24440200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:24437000-24437200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:24437200-24437400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:24437400-24437800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:24439600-24440200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:24440200-24442800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:24442800-24443400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:24443000-24444200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:24443200-24443600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:24443200-24443600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:24443200-24443600	Enhancers	HMEC	breast
12	chr11:24443200-24444000	Enhancers	NHEK	skin
13	chr11:24449600-24450000	Enhancers	Fetal Intestine Large	intestine
14	chr11:24449800-24450200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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