Variant report

Variant	esv14056
Chromosome Location	chr2:126393537-126394107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544543175	chr2:126393543-126393544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201773385	chr2:126393547-126393548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs67643916	chr2:126393548-126393549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370690679	chr2:126393550-126393551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141184729	chr2:126393574-126393575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530185501	chr2:126393603-126393604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376193327	chr2:126393605-126393606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58768941	chr2:126393647-126393648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566824960	chr2:126393699-126393700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532669186	chr2:126393714-126393715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373716523	chr2:126393792-126393793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116189766	chr2:126393864-126393865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13432902	chr2:126393876-126393877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574037038	chr2:126393879-126393880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537342567	chr2:126393910-126393911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542610937	chr2:126393923-126393924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369979332	chr2:126393928-126393929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373441048	chr2:126393974-126393975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567573763	chr2:126393981-126393982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536021817	chr2:126394002-126394003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553153220	chr2:126394003-126394004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559493036	chr2:126394013-126394014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55672328	chr2:126394030-126394031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2098969	chr2:126394045-126394046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545121598	chr2:126394048-126394049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182966909	chr2:126394083-126394084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574940430	chr2:126394093-126394094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551599925	chr2:126394101-126394102	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
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126393200-126399200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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