Variant report

Variant	esv5705
Chromosome Location	chr2:54565265-54567729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556059899	chr2:54565305-54565306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532344354	chr2:54565324-54565325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552128227	chr2:54565376-54565377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545579794	chr2:54565401-54565402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377039260	chr2:54565402-54565403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189585127	chr2:54565435-54565436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371081703	chr2:54565477-54565478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369366046	chr2:54565486-54565487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372149836	chr2:54565494-54565495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375437127	chr2:54565495-54565496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369012056	chr2:54565496-54565497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536656539	chr2:54565543-54565544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183363525	chr2:54565549-54565550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577163038	chr2:54565573-54565574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187562761	chr2:54565580-54565581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573175764	chr2:54565655-54565656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553322062	chr2:54565749-54565750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572514221	chr2:54566112-54566113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573409760	chr2:54566118-54566119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541926315	chr2:54566119-54566120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562223026	chr2:54566179-54566180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192451680	chr2:54566194-54566195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13409712	chr2:54566271-54566272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559233873	chr2:54566316-54566317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563565208	chr2:54566496-54566497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147400629	chr2:54566748-54566749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139693550	chr2:54566749-54566750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373734822	chr2:54566907-54566908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145444179	chr2:54566915-54566916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13385115	chr2:54566930-54566931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146912528	chr2:54566939-54566940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183846522	chr2:54566955-54566956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538517649	chr2:54567155-54567156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567815711	chr2:54567203-54567204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536644402	chr2:54567207-54567208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78950037	chr2:54567213-54567214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570790974	chr2:54567244-54567245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201506438	chr2:54567289-54567290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539719178	chr2:54567338-54567339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553647313	chr2:54567353-54567354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188289944	chr2:54567394-54567395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192975287	chr2:54567400-54567401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113134435	chr2:54567472-54567473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113735675	chr2:54567473-54567474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558894066	chr2:54567489-54567490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7604863	chr2:54567519-54567520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575848610	chr2:54567535-54567536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12713256	chr2:54567590-54567591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs151073591	chr2:54567597-54567598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578086185	chr2:54567602-54567603	Weak transcription Enhancers	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:27 , 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	chr2:54562000-54565400	Enhancers	Fetal Heart	heart
4	chr2:54562600-54565400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:54562800-54565400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:54563200-54568600	Weak transcription	Right Atrium	heart
7	chr2:54564200-54565400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:54564200-54568600	Weak transcription	Fetal Brain Female	brain
9	chr2:54564200-54568800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:54564400-54565400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:54564400-54565400	Enhancers	HSMMtube	muscle
12	chr2:54564400-54568800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:54564400-54571200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:54564600-54565400	Enhancers	NHLF	lung
15	chr2:54564600-54568800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:54564600-54569000	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:54564800-54569000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:54565000-54569400	Weak transcription	NHDF-Ad	bronchial
19	chr2:54565200-54565400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:54565200-54565400	Enhancers	Lung	lung
21	chr2:54565200-54570000	Weak transcription	Osteobl	bone
22	chr2:54565400-54567400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:54565400-54567600	Weak transcription	NHLF	lung
24	chr2:54565400-54568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:54565400-54568600	Weak transcription	Fetal Heart	heart
26	chr2:54567600-54567800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:54567600-54567800	Enhancers	NHLF	lung

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