Variant report

Variant	esv3384555
Chromosome Location	chr2:185537407-185542705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs572020038	chr2:185537810-185537811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376073758	chr2:185537872-185537873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556777213	chr2:185537893-185537894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs137936249	chr2:185537989-185537990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185915049	chr2:185538036-185538037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575823330	chr2:185538063-185538064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543360361	chr2:185538067-185538068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565012928	chr2:185538075-185538076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7601869	chr2:185538107-185538108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541031753	chr2:185538118-185538119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559818007	chr2:185538121-185538122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72899952	chr2:185538154-185538155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374856235	chr2:185538193-185538194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191074902	chr2:185538251-185538252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553598206	chr2:185538300-185538301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142410468	chr2:185538325-185538326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1480480	chr2:185538399-185538400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552930175	chr2:185538401-185538402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200106458	chr2:185538431-185538432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148237725	chr2:185538475-185538476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547033360	chr2:185538501-185538502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565780057	chr2:185538591-185538592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572147842	chr2:185538612-185538613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77551852	chr2:185538656-185538657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554241292	chr2:185538699-185538700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575860414	chr2:185538708-185538709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536834567	chr2:185538777-185538778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183267517	chr2:185538800-185538801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558828057	chr2:185538860-185538861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546774948	chr2:185538884-185538885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541417469	chr2:185538917-185538918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6728764	chr2:185538930-185538931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575295276	chr2:185539040-185539041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186878109	chr2:185539063-185539064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560581114	chr2:185539065-185539066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191537701	chr2:185539068-185539069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563748066	chr2:185539190-185539191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531161561	chr2:185539253-185539254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552468352	chr2:185539256-185539257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564806420	chr2:185539262-185539263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528741594	chr2:185539345-185539346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547266104	chr2:185539352-185539353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565384529	chr2:185539385-185539386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368472837	chr2:185539386-185539387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141371475	chr2:185539401-185539402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569378827	chr2:185539423-185539424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536867754	chr2:185539485-185539486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10708796	chr2:185539523-185539524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375353913	chr2:185539529-185539530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368736069	chr2:185539530-185539531	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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185537800-185538800	Enhancers	Brain Germinal Matrix	brain
2	chr2:185538800-185544200	Weak transcription	Brain Germinal Matrix	brain

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