Variant report

Variant	rs241517
Chromosome Location	chr14:56566932-56566933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1046597	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2343374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs241515	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241516	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs241519	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs241520	0.83[EUR][1000 genomes]
rs241548	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs241550	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs241557	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs241559	0.90[EUR][1000 genomes]
rs241560	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241566	0.81[EUR][1000 genomes]
rs241567	0.93[ASN][1000 genomes]
rs242387	0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs242388	0.88[CEU][hapmap];0.81[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3912202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7151231	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7156867	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7157440	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs241517	ERO1L	cis	parietal	SCAN
rs241517	PELI2	cis	parietal	SCAN
rs241517	C14orf166	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56565400-56567000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:56565400-56567600	Enhancers	Fetal Lung	lung
3	chr14:56565800-56567400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:56565800-56567400	Enhancers	Aorta	Aorta
5	chr14:56565800-56567600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:56566000-56570600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:56566200-56567200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:56566200-56567200	Weak transcription	Fetal Kidney	kidney
9	chr14:56566200-56567600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:56566400-56567400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:56566400-56568400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:56566600-56567000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:56566600-56567000	Weak transcription	HSMMtube	muscle
14	chr14:56566600-56567600	Enhancers	Fetal Brain Male	brain
15	chr14:56566600-56572000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:56566800-56567600	Enhancers	NH-A	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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