Variant report

Variant	esv3428809
Chromosome Location	chr11:113385882-113391085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:113389338..113392133-chr11:113400005..113402461,2	K562	blood:
2	chr11:113380056..113382967-chr11:113385167..113387054,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKK1-4	chr11:113390999-113391425	l_546_chr11:113390998-113393187_testes

Extended variants
information (count: 188 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113592541	chr11:113385925-113385926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs58551886	chr11:113385962-113385963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192172537	chr11:113386026-113386027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374511640	chr11:113386042-113386043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4534613	chr11:113386043-113386044	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568696860	chr11:113386044-113386045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537731187	chr11:113386047-113386048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550810512	chr11:113386048-113386049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199952127	chr11:113386088-113386089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148857549	chr11:113386124-113386125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539601278	chr11:113386131-113386132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562147610	chr11:113386136-113386137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184492572	chr11:113386150-113386151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80189357	chr11:113386161-113386162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188669408	chr11:113386187-113386188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554534082	chr11:113386219-113386220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532619614	chr11:113386244-113386245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574669765	chr11:113386273-113386274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564434200	chr11:113386311-113386312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192558628	chr11:113386314-113386315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577115882	chr11:113386316-113386317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35738585	chr11:113386347-113386348	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34216353	chr11:113386391-113386392	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528572383	chr11:113386423-113386424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548324477	chr11:113386432-113386433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184277939	chr11:113386482-113386483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189044246	chr11:113386502-113386503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116788530	chr11:113386531-113386532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570762763	chr11:113386532-113386533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566575641	chr11:113386547-113386548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181177773	chr11:113386550-113386551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546753736	chr11:113386606-113386607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12361261	chr11:113386619-113386620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184928594	chr11:113386684-113386685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554314248	chr11:113386804-113386805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574363133	chr11:113386816-113386817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189874332	chr11:113386864-113386865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557316379	chr11:113386905-113386906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577176779	chr11:113386918-113386919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546054796	chr11:113386958-113386959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180676654	chr11:113386969-113386970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573306671	chr11:113386984-113386985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542302138	chr11:113387001-113387002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562002051	chr11:113387060-113387061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77531519	chr11:113387093-113387094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs202216520	chr11:113387098-113387099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544170527	chr11:113387139-113387140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7113641	chr11:113387223-113387224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369608943	chr11:113387240-113387241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186154071	chr11:113387255-113387256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Cancer	21129771	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Neuroblastoma	20406844	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Mantle cell lymphoma	19029149	CNVD
Squamous cell cancer	19047905	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	21385341	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113385400-113386200	Enhancers	NHEK	skin
2	chr11:113385400-113386400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:113385400-113386400	Enhancers	HMEC	breast
4	chr11:113386200-113390400	Weak transcription	NHEK	skin
5	chr11:113386400-113390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:113386400-113390000	Weak transcription	HMEC	breast
7	chr11:113386800-113387200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:113390000-113391400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:113390000-113391400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:113390000-113391400	Enhancers	HMEC	breast
11	chr11:113390000-113393200	Enhancers	HSMM	muscle
12	chr11:113390200-113390400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:113390200-113393200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:113390400-113390800	Enhancers	NHEK	skin
15	chr11:113390400-113391000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:113390400-113391200	Enhancers	HSMMtube	muscle
17	chr11:113390600-113390800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:113390600-113392400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:113390800-113392600	Weak transcription	NHEK	skin
20	chr11:113391000-113391200	Enhancers	Osteobl	bone
21	chr11:113391000-113399200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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