Variant report

Variant	esv3459569
Chromosome Location	chr2:53249263-53252810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs374331801	chr2:53249271-53249272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561690754	chr2:53249287-53249288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111584862	chr2:53249291-53249292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565958998	chr2:53249296-53249297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533636108	chr2:53249342-53249343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553625893	chr2:53249355-53249356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377290233	chr2:53249356-53249357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116619547	chr2:53249362-53249363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535846262	chr2:53249365-53249366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373271993	chr2:53249389-53249390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187179305	chr2:53249391-53249392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576391309	chr2:53249395-53249396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370625165	chr2:53249404-53249405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377159412	chr2:53249424-53249425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375376689	chr2:53249437-53249438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545352152	chr2:53249440-53249441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565070513	chr2:53249457-53249458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191000002	chr2:53249463-53249464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541230830	chr2:53249475-53249476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111301801	chr2:53249490-53249491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564561761	chr2:53249523-53249524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72893003	chr2:53249556-53249557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145897654	chr2:53249563-53249564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182717248	chr2:53249639-53249640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368653727	chr2:53249645-53249646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138380727	chr2:53249681-53249682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560782817	chr2:53249694-53249695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565923824	chr2:53249724-53249725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200241581	chr2:53249734-53249735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528635123	chr2:53249737-53249738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544954111	chr2:53249764-53249765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567217685	chr2:53249781-53249782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73932054	chr2:53249803-53249804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549560460	chr2:53249827-53249828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144363242	chr2:53249845-53249846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569714966	chr2:53249866-53249867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370253103	chr2:53249925-53249926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538925795	chr2:53249967-53249968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558850746	chr2:53250012-53250013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188977510	chr2:53250058-53250059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148423951	chr2:53250059-53250060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554763185	chr2:53250060-53250061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12617406	chr2:53250091-53250092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34297122	chr2:53250095-53250096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569399575	chr2:53250117-53250118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538098102	chr2:53250140-53250141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193052274	chr2:53250144-53250145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563336160	chr2:53250149-53250150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368840298	chr2:53250187-53250188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184974555	chr2:53250219-53250220	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53248800-53255400	Weak transcription	Fetal Lung	lung
2	chr2:53249000-53254200	Weak transcription	NHDF-Ad	bronchial
3	chr2:53252000-53252200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:53252200-53254000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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