Variant report

Variant	esv1843607
Chromosome Location	chr2:54565729-54571147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54560405..54562674-chr2:54570057..54572627,2	MCF-7	breast:
2	chr2:54570097..54573126-chr2:54573916..54576367,3	K562	blood:
3	chr2:54569839..54572791-chr2:54629016..54630836,2	K562	blood:
4	chr2:54556162..54557934-chr2:54568229..54570513,2	K562	blood:
5	chr2:54570432..54573126-chr2:54574195..54576367,2	K562	blood:

Variant related genes	Relation type
ENSG00000177994	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553322062	chr2:54565749-54565750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572514221	chr2:54566112-54566113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573409760	chr2:54566118-54566119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541926315	chr2:54566119-54566120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562223026	chr2:54566179-54566180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192451680	chr2:54566194-54566195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13409712	chr2:54566271-54566272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559233873	chr2:54566316-54566317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563565208	chr2:54566496-54566497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147400629	chr2:54566748-54566749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139693550	chr2:54566749-54566750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373734822	chr2:54566907-54566908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145444179	chr2:54566915-54566916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13385115	chr2:54566930-54566931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146912528	chr2:54566939-54566940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183846522	chr2:54566955-54566956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538517649	chr2:54567155-54567156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567815711	chr2:54567203-54567204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536644402	chr2:54567207-54567208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78950037	chr2:54567213-54567214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570790974	chr2:54567244-54567245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201506438	chr2:54567289-54567290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539719178	chr2:54567338-54567339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553647313	chr2:54567353-54567354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188289944	chr2:54567394-54567395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192975287	chr2:54567400-54567401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113134435	chr2:54567472-54567473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113735675	chr2:54567473-54567474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558894066	chr2:54567489-54567490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7604863	chr2:54567519-54567520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575848610	chr2:54567535-54567536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12713256	chr2:54567590-54567591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs151073591	chr2:54567597-54567598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578086185	chr2:54567602-54567603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377543017	chr2:54567606-54567607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559607096	chr2:54567660-54567661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62141762	chr2:54567704-54567705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528226024	chr2:54567717-54567718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184600706	chr2:54567753-54567754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189536458	chr2:54567770-54567771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560900991	chr2:54567797-54567798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561436127	chr2:54567835-54567836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12465432	chr2:54567963-54567964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191234303	chr2:54568016-54568017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570083631	chr2:54568018-54568019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539430296	chr2:54568019-54568020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140994421	chr2:54568070-54568071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71413266	chr2:54568117-54568118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373253809	chr2:54568134-54568135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557876782	chr2:54568137-54568138	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:37 , 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	chr2:54563200-54568600	Weak transcription	Right Atrium	heart
4	chr2:54564200-54568600	Weak transcription	Fetal Brain Female	brain
5	chr2:54564200-54568800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:54564400-54568800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:54564400-54571200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:54564600-54568800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:54564600-54569000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:54564800-54569000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:54565000-54569400	Weak transcription	NHDF-Ad	bronchial
12	chr2:54565200-54570000	Weak transcription	Osteobl	bone
13	chr2:54565400-54567400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:54565400-54567600	Weak transcription	NHLF	lung
15	chr2:54565400-54568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:54565400-54568600	Weak transcription	Fetal Heart	heart
17	chr2:54567600-54567800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:54567600-54567800	Enhancers	NHLF	lung
19	chr2:54567800-54568200	Weak transcription	NHLF	lung
20	chr2:54568200-54568600	Enhancers	NHLF	lung
21	chr2:54568200-54569400	Enhancers	Fetal Brain Male	brain
22	chr2:54568400-54569000	Enhancers	Right Ventricle	heart
23	chr2:54568400-54570000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:54568600-54568800	Enhancers	Right Atrium	heart
25	chr2:54568600-54569400	Enhancers	Fetal Brain Female	brain
26	chr2:54568600-54572000	Enhancers	Fetal Heart	heart
27	chr2:54568800-54569400	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:54568800-54570000	Enhancers	Colon Smooth Muscle	Colon
29	chr2:54568800-54570200	Enhancers	Brain Anterior Caudate	brain
30	chr2:54569000-54570000	Enhancers	Brain Hippocampus Middle	brain
31	chr2:54569000-54570400	Weak transcription	Right Ventricle	heart
32	chr2:54569000-54570600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:54569400-54570400	Enhancers	NHDF-Ad	bronchial
34	chr2:54569400-54587200	Weak transcription	Fetal Brain Male	brain
35	chr2:54570000-54570400	Enhancers	Osteobl	bone
36	chr2:54570000-54574800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:54570000-54575200	Weak transcription	Brain Hippocampus Middle	brain

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