Variant report

Variant	esv3527721
Chromosome Location	chr11:72261655-72264100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72248183..72250191-chr11:72262749..72265384,2	K562	blood:
2	chr11:72262899..72264765-chr11:72267921..72270295,2	MCF-7	breast:
3	chr11:72253701..72256576-chr11:72263470..72265138,2	MCF-7	breast:

Extended variants
information (count: 110 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11821124	chr11:72261661-72261662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559594426	chr11:72261662-72261663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11820623	chr11:72261664-72261665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551544800	chr11:72261665-72261666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7104851	chr11:72261666-72261667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537082297	chr11:72261668-72261669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548717762	chr11:72261670-72261671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376652331	chr11:72261673-72261674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189745094	chr11:72261676-72261677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11821141	chr11:72261679-72261680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115330800	chr11:72261683-72261684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572345645	chr11:72261709-72261710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546732436	chr11:72261710-72261711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568475606	chr11:72261737-72261738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529362191	chr11:72261781-72261782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11822802	chr11:72261785-72261786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs377377140	chr11:72261840-72261841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550730076	chr11:72261854-72261855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191665877	chr11:72261957-72261958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12365390	chr11:72261965-72261966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573938605	chr11:72261981-72261982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566110183	chr11:72262054-72262055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10793034	chr11:72262115-72262116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs559581343	chr11:72262149-72262150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533189892	chr11:72262158-72262159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551483553	chr11:72262175-72262176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138020136	chr11:72262186-72262187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530541055	chr11:72262189-72262190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71458284	chr11:72262207-72262208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1695328	chr11:72262208-72262209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529534961	chr11:72262219-72262220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547730368	chr11:72262292-72262293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184344334	chr11:72262336-72262337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539679511	chr11:72262367-72262368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547584102	chr11:72262379-72262380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200816228	chr11:72262415-72262416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142483856	chr11:72262419-72262420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570108030	chr11:72262429-72262430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537155784	chr11:72262450-72262451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555694304	chr11:72262451-72262452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376784438	chr11:72262466-72262467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72958161	chr11:72262470-72262471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188776160	chr11:72262478-72262479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181916055	chr11:72262484-72262485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545160059	chr11:72262503-72262504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143943596	chr11:72262514-72262515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530587437	chr11:72262526-72262527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148615530	chr11:72262552-72262553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187083786	chr11:72262594-72262595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528104071	chr11:72262599-72262600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72260400-72263200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:72260600-72262200	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:72260800-72263400	Weak transcription	HSMM	muscle
4	chr11:72261200-72263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:72261200-72263200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:72261400-72261800	Weak transcription	HSMMtube	muscle
7	chr11:72261400-72262400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:72261400-72263400	Weak transcription	HMEC	breast
9	chr11:72261400-72263400	Weak transcription	NHEK	skin
10	chr11:72261800-72262600	Enhancers	HSMMtube	muscle
11	chr11:72262200-72265200	Enhancers	Fetal Muscle Leg	muscle
12	chr11:72262400-72262600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:72262600-72263000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:72262600-72263400	Weak transcription	HSMMtube	muscle
15	chr11:72263000-72264200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:72263200-72263600	Enhancers	Fetal Muscle Trunk	muscle
17	chr11:72263200-72264800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:72263400-72263600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:72263400-72264000	Enhancers	HMEC	breast
20	chr11:72263400-72264000	Enhancers	NHEK	skin
21	chr11:72263400-72265400	Enhancers	HSMM	muscle
22	chr11:72263400-72265800	Enhancers	HSMMtube	muscle
23	chr11:72263600-72264000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:72263600-72264600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:72263800-72264000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:72264000-72272600	Weak transcription	NHEK	skin

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