Variant report

Variant	esv3330009
Chromosome Location	chr2:125267032-125269130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138666208	chr2:125267044-125267045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544524730	chr2:125267053-125267054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545685327	chr2:125267061-125267062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576345311	chr2:125267126-125267127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558257604	chr2:125267130-125267131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6752999	chr2:125267137-125267138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555382738	chr2:125267146-125267147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572191615	chr2:125267157-125267158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541154998	chr2:125267197-125267198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531085071	chr2:125267232-125267233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370508796	chr2:125267321-125267322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532222060	chr2:125267342-125267343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546036550	chr2:125267358-125267359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562640293	chr2:125267383-125267384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185634508	chr2:125267398-125267399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35013133	chr2:125267406-125267407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529729731	chr2:125267433-125267434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374398230	chr2:125267438-125267439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568099242	chr2:125267440-125267441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189292269	chr2:125267453-125267454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142685261	chr2:125267549-125267550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147357924	chr2:125267552-125267553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539655487	chr2:125267605-125267606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76726709	chr2:125267645-125267646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113723362	chr2:125267678-125267679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28617216	chr2:125267740-125267741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552012901	chr2:125267747-125267748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191281431	chr2:125267760-125267761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10207364	chr2:125267822-125267823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572128307	chr2:125267828-125267829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7604598	chr2:125267834-125267835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369953695	chr2:125267850-125267851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375331069	chr2:125267856-125267857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7604710	chr2:125267862-125267863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10183735	chr2:125267868-125267869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7425734	chr2:125267870-125267871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7422129	chr2:125267876-125267877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368230554	chr2:125267878-125267879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372365685	chr2:125267879-125267880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10183740	chr2:125267882-125267883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55913869	chr2:125267883-125267884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10641957	chr2:125267889-125267890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367890795	chr2:125267892-125267893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372008703	chr2:125267898-125267899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55830863	chr2:125267902-125267903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3039130	chr2:125267964-125267965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs70996071	chr2:125267966-125267967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201634055	chr2:125268050-125268051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376312693	chr2:125268055-125268056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs70996072	chr2:125268075-125268076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125259800-125271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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