Variant report

Variant	esv3459767
Chromosome Location	chr2:127044810-127047270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127041438..127045671-chr2:127046702..127049174,3	K562	blood:
2	chr2:127041438..127045671-chr2:127046702..127049174,3	K562	blood:
3	chr2:127027819..127029825-chr2:127044636..127047534,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 55 )

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	rs569559702	chr2:127044843-127044844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575556150	chr2:127044853-127044854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537814571	chr2:127044876-127044877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191550445	chr2:127044884-127044885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561383464	chr2:127044902-127044903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530131564	chr2:127044903-127044904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs360235	chr2:127044904-127044905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566699204	chr2:127044905-127044906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377416473	chr2:127044906-127044907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574872864	chr2:127044935-127044936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538818274	chr2:127044936-127044937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146258064	chr2:127044949-127044950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145448833	chr2:127044956-127044957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182468954	chr2:127044957-127044958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186730541	chr2:127044971-127044972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376392315	chr2:127045000-127045001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540412573	chr2:127045024-127045025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370569908	chr2:127045050-127045051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150718875	chr2:127045054-127045055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533856415	chr2:127045061-127045062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553875091	chr2:127045108-127045109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577030811	chr2:127045112-127045113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148833074	chr2:127045124-127045125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562675570	chr2:127045131-127045132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576256782	chr2:127045150-127045151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs360236	chr2:127045176-127045177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs72841593	chr2:127045198-127045199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546040324	chr2:127045220-127045221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184737970	chr2:127045222-127045223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143454207	chr2:127045229-127045230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75495455	chr2:127045245-127045246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148000252	chr2:127045290-127045291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532475943	chr2:127045318-127045319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187206550	chr2:127045331-127045332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569481257	chr2:127045343-127045344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564352571	chr2:127045352-127045353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531901275	chr2:127045353-127045354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59340001	chr2:127045355-127045356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567941164	chr2:127045390-127045391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79199666	chr2:127045406-127045407	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72965925	chr2:127045411-127045412	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192898817	chr2:127045446-127045447	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539589844	chr2:127045448-127045449	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536923026	chr2:127045470-127045471	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185453619	chr2:127045550-127045551	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75314963	chr2:127045555-127045556	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541740002	chr2:127045559-127045560	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555605624	chr2:127045561-127045562	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375147596	chr2:127045605-127045606	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531196924	chr2:127045641-127045642	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127044200-127046000	Weak transcription	K562	blood
2	chr2:127045400-127046000	Active TSS	Gastric	stomach
3	chr2:127046000-127046200	Enhancers	K562	blood
4	chr2:127046200-127055400	Weak transcription	K562	blood

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