Variant report

Variant	nsv10141
Chromosome Location	chr2:127122638-127124470
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	chr2:127120628..127123048-chr2:127125032..127126984,2	K562	blood:
2	chr2:127120628..127123970-chr2:127125032..127127562,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149331108	chr2:127123007-127123008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370022415	chr2:127123010-127123011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13015391	chr2:127123017-127123018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370098615	chr2:127123019-127123020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373907380	chr2:127123027-127123028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562520256	chr2:127123032-127123033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531567627	chr2:127123049-127123050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541673170	chr2:127123093-127123094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146181649	chr2:127123095-127123096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527587290	chr2:127123132-127123133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185294371	chr2:127123153-127123154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs383643	chr2:127123194-127123195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530298667	chr2:127123203-127123204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532497450	chr2:127123211-127123212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552668881	chr2:127123232-127123233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139134943	chr2:127123249-127123250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143993906	chr2:127123290-127123291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374799924	chr2:127123316-127123317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35486466	chr2:127123326-127123327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146439285	chr2:127123354-127123355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534258643	chr2:127123358-127123359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554114041	chr2:127123362-127123363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148643192	chr2:127123364-127123365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs359699	chr2:127123373-127123374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142904411	chr2:127123386-127123387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576077926	chr2:127123389-127123390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202115939	chr2:127123403-127123404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60234020	chr2:127123414-127123415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77092092	chr2:127123415-127123416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188446385	chr2:127123426-127123427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561873802	chr2:127123435-127123436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1905386	chr2:127123436-127123437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541385516	chr2:127123486-127123487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs417316	chr2:127123490-127123491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191696	chr2:127123563-127123564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560485136	chr2:127123565-127123566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532575718	chr2:127123570-127123571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193324	chr2:127123578-127123579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151098631	chr2:127123609-127123610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562975275	chr2:127123617-127123618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs168604	chr2:127123647-127123648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181220713	chr2:127123652-127123653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548361825	chr2:127123663-127123664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550239478	chr2:127123695-127123696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79220638	chr2:127123702-127123703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184926547	chr2:127123703-127123704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547715960	chr2:127123749-127123750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542270477	chr2:127123774-127123775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375502	chr2:127123776-127123777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539390042	chr2:127123814-127123815	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127123000-127127400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links