Variant report

Variant	esv3431891
Chromosome Location	chr2:125183752-125186914
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	chr2:125185428..125187787-chr2:125189293..125191485,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535037099	chr2:125183808-125183809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145607012	chr2:125183820-125183821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193083731	chr2:125183822-125183823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537323131	chr2:125183828-125183829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557634452	chr2:125183932-125183933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574278491	chr2:125184024-125184025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536804825	chr2:125184058-125184059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555506671	chr2:125184080-125184081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11890422	chr2:125184125-125184126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs77860887	chr2:125184138-125184139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563901994	chr2:125184154-125184155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577913727	chr2:125184155-125184156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541809447	chr2:125184184-125184185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114382446	chr2:125184186-125184187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112931256	chr2:125184193-125184194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567680477	chr2:125184197-125184198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559811297	chr2:125184228-125184229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528563520	chr2:125184322-125184323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577628117	chr2:125184331-125184332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551782646	chr2:125184338-125184339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571548431	chr2:125184362-125184363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377151517	chr2:125184405-125184406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185667954	chr2:125184407-125184408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567914520	chr2:125184421-125184422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201846354	chr2:125184457-125184458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536860355	chr2:125184465-125184466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190626412	chr2:125184488-125184489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544612495	chr2:125184529-125184530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565794283	chr2:125184538-125184539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2042657	chr2:125184570-125184571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181041148	chr2:125184602-125184603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577574699	chr2:125184632-125184633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117254173	chr2:125184653-125184654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183489667	chr2:125184746-125184747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573563254	chr2:125184756-125184757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542448991	chr2:125184789-125184790	Enhancers	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125183800-125184600	Enhancers	Liver	Liver
2	chr2:125183800-125184800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:125183800-125184800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:125183800-125184800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:125184000-125184600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:125184000-125184600	Enhancers	Aorta	Aorta
7	chr2:125184000-125184800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:125184000-125184800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:125184200-125184600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:125184200-125184600	Enhancers	Left Ventricle	heart
11	chr2:125184200-125184600	Enhancers	Right Atrium	heart
12	chr2:125184200-125184800	Enhancers	H1 Cell Line	embryonic stem cell

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