Variant report

Variant	esv2605826
Chromosome Location	chr2:53099469-53101038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577475131	chr2:53099483-53099484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546423751	chr2:53099526-53099527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530342539	chr2:53099540-53099541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552594509	chr2:53099558-53099559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532092852	chr2:53099604-53099605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572184222	chr2:53099638-53099639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540801026	chr2:53099645-53099646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186107181	chr2:53099690-53099691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529699668	chr2:53099726-53099727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143904902	chr2:53099750-53099751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563444039	chr2:53099753-53099754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13396729	chr2:53099786-53099787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367672507	chr2:53099845-53099846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373904199	chr2:53099935-53099936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551974076	chr2:53099965-53099966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115915089	chr2:53099977-53099978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191978266	chr2:53099987-53099988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568974324	chr2:53099992-53099993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376130692	chr2:53100001-53100002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183671831	chr2:53100002-53100003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188538424	chr2:53100004-53100005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570866204	chr2:53100047-53100048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13410536	chr2:53100062-53100063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144299980	chr2:53100107-53100108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548403194	chr2:53100161-53100162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540006074	chr2:53100179-53100180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191364287	chr2:53100198-53100199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60396084	chr2:53100220-53100221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35589993	chr2:53100239-53100240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372668058	chr2:53100275-53100276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142956482	chr2:53100279-53100280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534879964	chr2:53100341-53100342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141423302	chr2:53100346-53100347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376981680	chr2:53100370-53100371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574333476	chr2:53100386-53100387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182775740	chr2:53100416-53100417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1597653	chr2:53100420-53100421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576742420	chr2:53100437-53100438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187246948	chr2:53100438-53100439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559119203	chr2:53100456-53100457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567333674	chr2:53100457-53100458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536487589	chr2:53100465-53100466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556382737	chr2:53100523-53100524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191285292	chr2:53100536-53100537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75896131	chr2:53100541-53100542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530908035	chr2:53100571-53100572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1597654	chr2:53100572-53100573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570889904	chr2:53100577-53100578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540113928	chr2:53100587-53100588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547362288	chr2:53100613-53100614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53094400-53108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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