Variant report

Variant	esv3470707
Chromosome Location	chr11:63561151-63564485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542611724	chr11:63562624-63562625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs478981	chr11:63562632-63562633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7128971	chr11:63562687-63562688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7113325	chr11:63562691-63562692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368930351	chr11:63562699-63562700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561627533	chr11:63562729-63562730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370495275	chr11:63562756-63562757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549401616	chr11:63562757-63562758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569390757	chr11:63562760-63562761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575041229	chr11:63562768-63562769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191728965	chr11:63562769-63562770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114872733	chr11:63562798-63562799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs522648	chr11:63563010-63563011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562661987	chr11:63563030-63563031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192393549	chr11:63563127-63563128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572499252	chr11:63563132-63563133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202208846	chr11:63563142-63563143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9704170	chr11:63563165-63563166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541656398	chr11:63563227-63563228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548184561	chr11:63563235-63563236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112617419	chr11:63563273-63563274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550084185	chr11:63563333-63563334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189325696	chr11:63563346-63563347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531992645	chr11:63563349-63563350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561605110	chr11:63563414-63563415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551942265	chr11:63563423-63563424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565816911	chr11:63563430-63563431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527636610	chr11:63563443-63563444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192677875	chr11:63563456-63563457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534581406	chr11:63563497-63563498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548396116	chr11:63563503-63563504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568339524	chr11:63563506-63563507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561381668	chr11:63563564-63563565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184295838	chr11:63563573-63563574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570024195	chr11:63563582-63563583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61269915	chr11:63563598-63563599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547562732	chr11:63563616-63563617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189062727	chr11:63563645-63563646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539037640	chr11:63563675-63563676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181214157	chr11:63563684-63563685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147783181	chr11:63563685-63563686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186454081	chr11:63563726-63563727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534528192	chr11:63563727-63563728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555117836	chr11:63563732-63563733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117836731	chr11:63563746-63563747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200974953	chr11:63563815-63563816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543670577	chr11:63563837-63563838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563644126	chr11:63563871-63563872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60461390	chr11:63563872-63563873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111535388	chr11:63563873-63563874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	22522925	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63560800-63561200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:63562600-63562800	Enhancers	Lung	lung
3	chr11:63562600-63562800	Enhancers	Spleen	Spleen
4	chr11:63563000-63563800	Weak transcription	Spleen	Spleen
5	chr11:63563000-63564400	Weak transcription	Lung	lung
6	chr11:63563800-63564200	Enhancers	Spleen	Spleen
7	chr11:63564000-63564200	Enhancers	Adipose Nuclei	Adipose
8	chr11:63564200-63564600	Bivalent Enhancer	Adipose Nuclei	Adipose
9	chr11:63564200-63564600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:63564400-63565000	Enhancers	Lung	lung
11	chr11:63564400-63565000	Enhancers	Right Atrium	heart

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