Variant report

Variant	esv3391711
Chromosome Location	chr2:125568832-125570730
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	chr2:125569809..125571965-chr2:125575876..125577470,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534921561	chr2:125568879-125568880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557707521	chr2:125568899-125568900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370296273	chr2:125568911-125568912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191813420	chr2:125568960-125568961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184054703	chr2:125568974-125568975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556808613	chr2:125569025-125569026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34195284	chr2:125569041-125569042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573885546	chr2:125569042-125569043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2624913	chr2:125569065-125569066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370754208	chr2:125569127-125569128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542772158	chr2:125569184-125569185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575251410	chr2:125569201-125569202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535853559	chr2:125569219-125569220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553153790	chr2:125569235-125569236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573171975	chr2:125569245-125569246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs70999221	chr2:125569283-125569284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11431738	chr2:125569285-125569286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397985771	chr2:125569291-125569292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545389958	chr2:125569293-125569294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534868232	chr2:125569315-125569316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62171356	chr2:125569321-125569322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571245348	chr2:125569348-125569349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372776869	chr2:125569423-125569424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544688942	chr2:125569444-125569445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376950593	chr2:125569486-125569487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561409152	chr2:125569494-125569495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200898522	chr2:125569525-125569526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13008632	chr2:125569526-125569527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369210316	chr2:125569544-125569545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192973792	chr2:125569558-125569559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376019122	chr2:125569579-125569580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370909210	chr2:125569588-125569589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372496418	chr2:125569591-125569592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373944151	chr2:125569596-125569597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368646641	chr2:125569602-125569603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371868697	chr2:125569617-125569618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374208660	chr2:125569619-125569620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368691321	chr2:125569625-125569626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185253907	chr2:125569628-125569629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372108638	chr2:125569654-125569655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12478809	chr2:125569661-125569662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12478811	chr2:125569668-125569669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375864101	chr2:125569675-125569676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12475049	chr2:125569684-125569685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376939105	chr2:125569686-125569687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12478817	chr2:125569690-125569691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12478818	chr2:125569697-125569698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11290424	chr2:125569712-125569713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182215652	chr2:125569726-125569727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565906604	chr2:125569757-125569758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125568600-125571400	Weak transcription	Fetal Heart	heart

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