Variant report

Variant	esv3520996
Chromosome Location	chr2:54564648-54568496
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	chr2:54556162..54557934-chr2:54568229..54570513,2	K562	blood:
2	chr2:54555822..54558489-chr2:54561441..54564836,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177994	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528719511	chr2:54564669-54564670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548223143	chr2:54564679-54564680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143874960	chr2:54564682-54564683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148683389	chr2:54564829-54564830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534601707	chr2:54564845-54564846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554302251	chr2:54564846-54564847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575054042	chr2:54564847-54564848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542122723	chr2:54564848-54564849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191626991	chr2:54564916-54564917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562114408	chr2:54564926-54564927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73933627	chr2:54564934-54564935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576980530	chr2:54564936-54564937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545988110	chr2:54564962-54564963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549596487	chr2:54564969-54564970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559791391	chr2:54564976-54564977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528615602	chr2:54564995-54564996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542186989	chr2:54565005-54565006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561909275	chr2:54565113-54565114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568203577	chr2:54565165-54565166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182897997	chr2:54565173-54565174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186224051	chr2:54565189-54565190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114129813	chr2:54565215-54565216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569763407	chr2:54565247-54565248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374233233	chr2:54565250-54565251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537581777	chr2:54565255-54565256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556059899	chr2:54565305-54565306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532344354	chr2:54565324-54565325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552128227	chr2:54565376-54565377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545579794	chr2:54565401-54565402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377039260	chr2:54565402-54565403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189585127	chr2:54565435-54565436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371081703	chr2:54565477-54565478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369366046	chr2:54565486-54565487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372149836	chr2:54565494-54565495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375437127	chr2:54565495-54565496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369012056	chr2:54565496-54565497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536656539	chr2:54565543-54565544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183363525	chr2:54565549-54565550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577163038	chr2:54565573-54565574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187562761	chr2:54565580-54565581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573175764	chr2:54565655-54565656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553322062	chr2:54565749-54565750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572514221	chr2:54566112-54566113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573409760	chr2:54566118-54566119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541926315	chr2:54566119-54566120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562223026	chr2:54566179-54566180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192451680	chr2:54566194-54566195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13409712	chr2:54566271-54566272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559233873	chr2:54566316-54566317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563565208	chr2:54566496-54566497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54558800-54574800	Weak transcription	Left Ventricle	heart
2	chr2:54559000-54568400	Weak transcription	Right Ventricle	heart
3	chr2:54562000-54564800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:54562000-54565400	Enhancers	Fetal Heart	heart
5	chr2:54562200-54565000	Enhancers	HSMM	muscle
6	chr2:54562400-54565000	Enhancers	NHDF-Ad	bronchial
7	chr2:54562600-54565400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:54562800-54565200	Enhancers	Osteobl	bone
9	chr2:54562800-54565400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:54563000-54564800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:54563200-54568600	Weak transcription	Right Atrium	heart
12	chr2:54564200-54565200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:54564200-54565200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:54564200-54565200	Weak transcription	Lung	lung
15	chr2:54564200-54565400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:54564200-54568600	Weak transcription	Fetal Brain Female	brain
17	chr2:54564200-54568800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:54564400-54565400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:54564400-54565400	Enhancers	HSMMtube	muscle
20	chr2:54564400-54568800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:54564400-54571200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:54564600-54565400	Enhancers	NHLF	lung
23	chr2:54564600-54568800	Weak transcription	Brain Anterior Caudate	brain
24	chr2:54564600-54569000	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:54564800-54569000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:54565000-54569400	Weak transcription	NHDF-Ad	bronchial
27	chr2:54565200-54565400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:54565200-54565400	Enhancers	Lung	lung
29	chr2:54565200-54570000	Weak transcription	Osteobl	bone
30	chr2:54565400-54567400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:54565400-54567600	Weak transcription	NHLF	lung
32	chr2:54565400-54568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:54565400-54568600	Weak transcription	Fetal Heart	heart
34	chr2:54567600-54567800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:54567600-54567800	Enhancers	NHLF	lung
36	chr2:54567800-54568200	Weak transcription	NHLF	lung
37	chr2:54568200-54568600	Enhancers	NHLF	lung
38	chr2:54568200-54569400	Enhancers	Fetal Brain Male	brain
39	chr2:54568400-54569000	Enhancers	Right Ventricle	heart
40	chr2:54568400-54570000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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