Variant report

Variant	esv3371500
Chromosome Location	chr11:26257976-26261674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572310735	chr11:26257979-26257980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557985167	chr11:26258037-26258038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539902748	chr11:26258059-26258060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376505902	chr11:26258092-26258093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71480117	chr11:26258095-26258096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191913291	chr11:26258103-26258104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562517006	chr11:26258136-26258137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532393411	chr11:26258141-26258142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533048642	chr11:26258147-26258148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545290920	chr11:26258172-26258173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377517743	chr11:26258182-26258183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112809535	chr11:26258192-26258193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549246187	chr11:26258193-26258194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567740612	chr11:26258205-26258206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148082343	chr11:26258221-26258222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11029411	chr11:26258226-26258227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573378250	chr11:26258235-26258236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538918542	chr11:26258258-26258259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11029412	chr11:26258289-26258290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558911807	chr11:26258297-26258298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3101361	chr11:26258343-26258344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191578485	chr11:26258360-26258361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574868195	chr11:26258365-26258366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370064822	chr11:26258384-26258385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373297215	chr11:26258385-26258386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554774654	chr11:26258432-26258433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11029413	chr11:26258475-26258476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11029414	chr11:26258481-26258482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147002058	chr11:26258514-26258515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10834929	chr11:26258525-26258526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138214006	chr11:26258577-26258578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201151917	chr11:26258580-26258581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17243196	chr11:26258632-26258633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184477537	chr11:26258639-26258640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56095918	chr11:26258660-26258661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149462202	chr11:26258676-26258677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371829297	chr11:26258692-26258693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531812692	chr11:26258718-26258719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550254287	chr11:26258736-26258737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112868227	chr11:26258745-26258746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565096292	chr11:26258797-26258798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532531851	chr11:26258812-26258813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189453265	chr11:26258833-26258834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547023130	chr11:26258841-26258842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566014759	chr11:26258886-26258887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182150253	chr11:26258888-26258889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571671796	chr11:26258890-26258891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538995569	chr11:26258904-26258905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569916460	chr11:26259053-26259054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370357129	chr11:26259069-26259070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	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
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26251800-26259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:26256600-26265200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:26256800-26265000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:26259200-26260000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:26260800-26261000	Enhancers	Pancreatic Islets	Pancreatic Islet

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