Variant report

Variant	esv3405235
Chromosome Location	chr2:57100248-57104946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150712594	chr2:57101000-57101001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76781579	chr2:57101006-57101007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191572250	chr2:57101038-57101039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538639441	chr2:57101088-57101089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558541763	chr2:57101146-57101147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182660466	chr2:57101268-57101269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187343460	chr2:57101372-57101373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118175704	chr2:57101387-57101388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191977688	chr2:57101405-57101406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574153655	chr2:57101432-57101433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139224589	chr2:57101436-57101437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6545606	chr2:57101446-57101447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185212502	chr2:57101486-57101487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190503195	chr2:57101493-57101494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564930602	chr2:57101511-57101512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145291510	chr2:57101546-57101547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193121544	chr2:57101559-57101560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114632437	chr2:57101578-57101579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552497756	chr2:57101662-57101663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549670069	chr2:57101689-57101690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563602482	chr2:57101703-57101704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147630588	chr2:57101743-57101744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140509593	chr2:57101774-57101775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565663341	chr2:57101799-57101800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2904426	chr2:57101805-57101806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548326004	chr2:57101807-57101808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4672169	chr2:57101813-57101814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568027152	chr2:57101819-57101820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536861624	chr2:57101848-57101849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542701987	chr2:57101858-57101859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556431144	chr2:57101862-57101863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369555882	chr2:57101884-57101885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571801623	chr2:57101888-57101889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554036411	chr2:57101939-57101940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55951264	chr2:57101962-57101963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558560573	chr2:57101983-57101984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536589985	chr2:57102039-57102040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62162230	chr2:57102048-57102049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540995486	chr2:57102051-57102052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80178959	chr2:57102079-57102080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185800929	chr2:57102110-57102111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201451544	chr2:57102111-57102112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543648816	chr2:57102197-57102198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373311494	chr2:57102236-57102237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370869886	chr2:57102286-57102287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373947414	chr2:57102311-57102312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113482705	chr2:57102334-57102335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544684658	chr2:57102348-57102349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532471138	chr2:57102362-57102363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552477923	chr2:57102367-57102368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57101000-57104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:57102000-57102800	Enhancers	Spleen	Spleen

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