Variant report

Variant	esv3459761
Chromosome Location	chr2:126478825-126482394
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	chr2:126475681..126477438-chr2:126478103..126480608,2	K562	blood:
2	chr2:126480919..126482425-chr2:126537842..126540403,2	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577107017	chr2:126478829-126478830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546393691	chr2:126478863-126478864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75241671	chr2:126478873-126478874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576483168	chr2:126478874-126478875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56358789	chr2:126478881-126478882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1465532	chr2:126478885-126478886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527731728	chr2:126478910-126478911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374331492	chr2:126478911-126478912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540549771	chr2:126478922-126478923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147445533	chr2:126478945-126478946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78525902	chr2:126478948-126478949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532280422	chr2:126478978-126478979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139923300	chr2:126478979-126478980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192663928	chr2:126478997-126478998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185408228	chr2:126479052-126479053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548027218	chr2:126479109-126479110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145439914	chr2:126479152-126479153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369633540	chr2:126479166-126479167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533577853	chr2:126479178-126479179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7557410	chr2:126479207-126479208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577140520	chr2:126479239-126479240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539696726	chr2:126479244-126479245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375547493	chr2:126479265-126479266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556725607	chr2:126479272-126479273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535514861	chr2:126479282-126479283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531847117	chr2:126479296-126479297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576598850	chr2:126479411-126479412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148659042	chr2:126479438-126479439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142152101	chr2:126479515-126479516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151199483	chr2:126479540-126479541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541461266	chr2:126479554-126479555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564429885	chr2:126479557-126479558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1346316	chr2:126479602-126479603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545822852	chr2:126479611-126479612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562799390	chr2:126479619-126479620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531433894	chr2:126479629-126479630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555720863	chr2:126479644-126479645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567831812	chr2:126479660-126479661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527355785	chr2:126479682-126479683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140358234	chr2:126479720-126479721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377405752	chr2:126479725-126479726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189071634	chr2:126479738-126479739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370306921	chr2:126479757-126479758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573898291	chr2:126479759-126479760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192659007	chr2:126479877-126479878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539408729	chr2:126479878-126479879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556628585	chr2:126479888-126479889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562795742	chr2:126479897-126479898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1465533	chr2:126479929-126479930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs78313082	chr2:126479936-126479937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126478600-126479000	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr2:126478800-126484600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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