Variant report

Variant	esv3359365
Chromosome Location	chr11:25252776-25256074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150072432	chr11:25252783-25252784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535672755	chr11:25252833-25252834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555709134	chr11:25252843-25252844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572583399	chr11:25252857-25252858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541205942	chr11:25252858-25252859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35777593	chr11:25252869-25252870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs578069686	chr11:25252907-25252908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148725121	chr11:25253015-25253016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563593492	chr11:25253039-25253040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16913749	chr11:25253144-25253145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542887430	chr11:25253147-25253148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559319775	chr11:25253160-25253161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550623294	chr11:25253210-25253211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528281741	chr11:25253222-25253223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36090436	chr11:25253235-25253236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551235069	chr11:25253237-25253238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570969759	chr11:25253238-25253239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530439872	chr11:25253255-25253256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550131458	chr11:25253272-25253273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568638782	chr11:25253277-25253278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11028522	chr11:25253285-25253286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556013573	chr11:25253293-25253294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555002738	chr11:25253367-25253368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35279993	chr11:25253404-25253405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372144732	chr11:25253422-25253423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376998544	chr11:25253446-25253447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549185460	chr11:25253454-25253455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535171566	chr11:25253468-25253469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557982471	chr11:25253473-25253474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188679388	chr11:25253484-25253485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143615347	chr11:25253491-25253492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557420442	chr11:25253492-25253493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113462333	chr11:25253504-25253505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11383081	chr11:25253505-25253506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200650325	chr11:25253516-25253517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193285667	chr11:25253544-25253545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542597556	chr11:25253584-25253585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559595193	chr11:25253585-25253586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25252600-25253600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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