Variant report

Variant	esv3457893
Chromosome Location	chr2:73081432-73082593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574088334	chr2:73081500-73081501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185897628	chr2:73081501-73081502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549944764	chr2:73081505-73081506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571495541	chr2:73081535-73081536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538917669	chr2:73081549-73081550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144449204	chr2:73081576-73081577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566000407	chr2:73081615-73081616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62148102	chr2:73081642-73081643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147973194	chr2:73081666-73081667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554275304	chr2:73081720-73081721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576076230	chr2:73081758-73081759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80076556	chr2:73081769-73081770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12615875	chr2:73081791-73081792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577058604	chr2:73081827-73081828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373147671	chr2:73081850-73081851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559590153	chr2:73081858-73081859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142459165	chr2:73081867-73081868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189739817	chr2:73081891-73081892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181764724	chr2:73081915-73081916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186349574	chr2:73081962-73081963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190403413	chr2:73082081-73082082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11886503	chr2:73082129-73082130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552424680	chr2:73082174-73082175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549823451	chr2:73082183-73082184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540542086	chr2:73082218-73082219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61054118	chr2:73082219-73082220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397947382	chr2:73082226-73082227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145956859	chr2:73082252-73082253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55802296	chr2:73082263-73082264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547615071	chr2:73082283-73082284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551667633	chr2:73082296-73082297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565937747	chr2:73082307-73082308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536190809	chr2:73082308-73082309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183829165	chr2:73082324-73082325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73945631	chr2:73082344-73082345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs187974592	chr2:73082349-73082350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558197614	chr2:73082362-73082363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576553038	chr2:73082403-73082404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534844211	chr2:73082404-73082405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191249776	chr2:73082438-73082439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575068200	chr2:73082455-73082456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542186258	chr2:73082533-73082534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563685370	chr2:73082541-73082542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183051669	chr2:73082546-73082547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386647310	chr2:73082562-73082563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4852900	chr2:73082563-73082564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116798521	chr2:73082565-73082566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547601007	chr2:73082587-73082588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73079000-73083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:73079000-73088200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:73082000-73082200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:73082200-73082400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:73082200-73088200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:73082400-73082600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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