Variant report

Variant	esv275012
Chromosome Location	chr2:57681537-57690006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:57686552..57689405-chr2:57735534..57737911,2	K562	blood:
2	chr2:57680802..57681722-chr2:57724395..57725159,3	MCF-7	breast:

Extended variants
information (count: 140 )
Associated
traits (count: 78 )

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	rs560911473	chr2:57681577-57681578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7571066	chr2:57681594-57681595	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552631148	chr2:57681595-57681596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571635368	chr2:57681601-57681602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566344284	chr2:57681607-57681608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7571099	chr2:57681645-57681646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs138308992	chr2:57681658-57681659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76361849	chr2:57681668-57681669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143891378	chr2:57681679-57681680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538549479	chr2:57681681-57681682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537190598	chr2:57681703-57681704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7571200	chr2:57681715-57681716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577198350	chr2:57681736-57681737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539785391	chr2:57681750-57681751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78457155	chr2:57681767-57681768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186945203	chr2:57681788-57681789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369935334	chr2:57681795-57681796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561584843	chr2:57681808-57681809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72814597	chr2:57681814-57681815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2222228	chr2:57681816-57681817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147272688	chr2:57681848-57681849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368989770	chr2:57681858-57681859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373240778	chr2:57681892-57681893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532807716	chr2:57681905-57681906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72814599	chr2:57681910-57681911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140863227	chr2:57681947-57681948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149928548	chr2:57681956-57681957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377694215	chr2:57681958-57681959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144073193	chr2:57682010-57682011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183327067	chr2:57682044-57682045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs980861	chr2:57682057-57682058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs79982931	chr2:57682079-57682080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117361312	chr2:57682088-57682089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76101910	chr2:57682099-57682100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201699671	chr2:57682105-57682106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552908673	chr2:57682117-57682118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76113262	chr2:57682121-57682122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557445223	chr2:57682123-57682124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535403502	chr2:57682133-57682134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200571721	chr2:57682177-57682178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555218725	chr2:57682198-57682199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs980860	chr2:57682213-57682214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs71393576	chr2:57682249-57682250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs980859	chr2:57682251-57682252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs35563101	chr2:57682257-57682258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75533305	chr2:57682259-57682260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564050434	chr2:57682366-57682367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577623113	chr2:57682379-57682380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187768210	chr2:57682397-57682398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563381374	chr2:57687207-57687208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57677800-57681800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:57681400-57681600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:57681800-57682400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:57687200-57692400	Weak transcription	Right Atrium	heart
5	chr2:57688200-57689800	Enhancers	Fetal Brain Male	brain
6	chr2:57688600-57688800	Enhancers	Fetal Brain Female	brain
7	chr2:57689400-57689600	Enhancers	Fetal Brain Female	brain

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