Variant report

Variant	nsv520468
Chromosome Location	chr2:125290839-125291034
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	chr2:125285855..125287734-chr2:125289747..125291485,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12612022	chr2:125290839-125290840	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563183647	chr2:125290855-125290856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141591958	chr2:125290863-125290864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531929882	chr2:125290882-125290883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548535172	chr2:125290941-125290942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568118399	chr2:125290945-125290946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533989637	chr2:125290982-125290983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76278836	chr2:125290996-125290997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542700437	chr2:125291004-125291005	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs114900387	chr2:125291020-125291021	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376570535	chr2:125291021-125291022	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs13015323	chr2:125291034-125291035	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125288400-125291000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:125290200-125291600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:125290400-125291400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:125290400-125291600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:125290600-125291600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr2:125290800-125291000	Enhancers	Stomach Smooth Muscle	stomach
7	chr2:125290800-125291200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr2:125290800-125291400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:125290800-125291800	Enhancers	Fetal Stomach	stomach
10	chr2:125290800-125292000	Enhancers	Fetal Heart	heart
11	chr2:125291000-125291400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:125291000-125291400	Enhancers	Brain Germinal Matrix	brain
13	chr2:125291000-125291400	Enhancers	Fetal Muscle Leg	muscle
14	chr2:125291000-125291400	Enhancers	Lung	lung
15	chr2:125291000-125291400	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr2:125291000-125291600	Enhancers	Right Atrium	heart
17	chr2:125291000-125291800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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