Variant report

Variant	esv275201
Chromosome Location	chr2:142947513-142948281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13408409	chr2:142947513-142947514	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112512157	chr2:142947516-142947517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551921959	chr2:142947535-142947536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374456756	chr2:142947554-142947555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565689032	chr2:142947571-142947572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534297073	chr2:142947625-142947626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554047315	chr2:142947634-142947635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557266259	chr2:142947635-142947636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188723504	chr2:142947646-142947647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552805566	chr2:142947665-142947666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72852699	chr2:142947685-142947686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1523707	chr2:142947702-142947703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs576494632	chr2:142947722-142947723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193023619	chr2:142947763-142947764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs16856940	chr2:142947770-142947771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7587056	chr2:142947939-142947940	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs151148674	chr2:142947973-142947974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530010753	chr2:142947983-142947984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12618743	chr2:142948023-142948024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563484287	chr2:142948089-142948090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532176330	chr2:142948119-142948120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77614327	chr2:142948179-142948180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568388134	chr2:142948218-142948219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552274401	chr2:142948251-142948252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184065459	chr2:142948257-142948258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142940200-142948200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:142944000-142948200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:142944000-142948200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:142944000-142948400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:142944000-142953200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:142944200-142948200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:142944600-142948000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:142946200-142947600	Enhancers	NH-A	brain
9	chr2:142946200-142949000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:142946200-142949200	Enhancers	A549	lung
11	chr2:142947400-142949200	Enhancers	HUVEC	blood vessel
12	chr2:142947600-142948400	Weak transcription	NH-A	brain
13	chr2:142948000-142948800	Enhancers	Fetal Heart	heart
14	chr2:142948000-142949000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:142948200-142948600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:142948200-142948800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:142948200-142948800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:142948200-142949200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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