Variant report

Variant	esv3584772
Chromosome Location	chr2:180418490-180422137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558304361	chr2:180418492-180418493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575157270	chr2:180418497-180418498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541745818	chr2:180418566-180418567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537567594	chr2:180418594-180418595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558005156	chr2:180418730-180418731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372257414	chr2:180418795-180418796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575093143	chr2:180418802-180418803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71425637	chr2:180418811-180418812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73976405	chr2:180418840-180418841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78994047	chr2:180418843-180418844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371925049	chr2:180418891-180418892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562771725	chr2:180418897-180418898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549536044	chr2:180418970-180418971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531701838	chr2:180418982-180418983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548404415	chr2:180419062-180419063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186337668	chr2:180419072-180419073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376243058	chr2:180419090-180419091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111703411	chr2:180419115-180419116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546431211	chr2:180419116-180419117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566317224	chr2:180419186-180419187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190786526	chr2:180419200-180419201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552421860	chr2:180419225-180419226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568777920	chr2:180419238-180419239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537805074	chr2:180419244-180419245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370857590	chr2:180419259-180419260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554369427	chr2:180419260-180419261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574630099	chr2:180419262-180419263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571265222	chr2:180419312-180419313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147017017	chr2:180419409-180419410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554438751	chr2:180419434-180419435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574091316	chr2:180419471-180419472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577491758	chr2:180419473-180419474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546201491	chr2:180419474-180419475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544373725	chr2:180419491-180419492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553893987	chr2:180419497-180419498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563157170	chr2:180419506-180419507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573781385	chr2:180419535-180419536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536086040	chr2:180419564-180419565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527437693	chr2:180419570-180419571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556296561	chr2:180419591-180419592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182160680	chr2:180419592-180419593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545250141	chr2:180419597-180419598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561739024	chr2:180419619-180419620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7573632	chr2:180419700-180419701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541106206	chr2:180419773-180419774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138277966	chr2:180419780-180419781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187943592	chr2:180419789-180419790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192612707	chr2:180419824-180419825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569084576	chr2:180419829-180419830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532588372	chr2:180419838-180419839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:180415600-180426600	Weak transcription	Fetal Brain Male	brain
3	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:180416200-180420400	Weak transcription	Fetal Brain Female	brain
5	chr2:180416600-180420000	Weak transcription	Liver	Liver
6	chr2:180416600-180421000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:180416800-180420000	Weak transcription	HepG2	liver
8	chr2:180417000-180426800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:180417200-180423000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:180417400-180418600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:180418600-180418800	Weak transcription	Fetal Kidney	kidney
12	chr2:180418600-180419000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:180418800-180419000	Enhancers	Fetal Kidney	kidney
14	chr2:180419000-180422400	Weak transcription	Fetal Kidney	kidney
15	chr2:180419000-180422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:180420000-180420200	Enhancers	Liver	Liver
17	chr2:180420000-180422000	Enhancers	HepG2	liver
18	chr2:180420200-180420600	Weak transcription	Liver	Liver
19	chr2:180420400-180420600	Active TSS	Fetal Brain Female	brain
20	chr2:180420400-180420800	Active TSS	Right Atrium	heart
21	chr2:180420600-180420800	Enhancers	Liver	Liver
22	chr2:180420600-180420800	Flanking Active TSS	Fetal Brain Female	brain
23	chr2:180420600-180421400	Enhancers	Psoas Muscle	Psoas
24	chr2:180420600-180421600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:180420600-180421600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:180420600-180422000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:180420800-180422400	Weak transcription	Liver	Liver
28	chr2:180420800-180425800	Weak transcription	Right Atrium	heart
29	chr2:180421400-180423400	Weak transcription	Psoas Muscle	Psoas
30	chr2:180421600-180426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:180422000-180422200	Flanking Active TSS	HepG2	liver
32	chr2:180422000-180422400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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