Variant report

Variant	rs12913745
Chromosome Location	chr15:49703679-49703680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10083602	0.81[EUR][1000 genomes]
rs10519230	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1057638	0.80[EUR][1000 genomes]
rs11070692	0.87[CEU][hapmap];0.87[CHB][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs11070693	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11070694	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11631040	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11631687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11636671	0.88[ASN][1000 genomes]
rs11636795	0.91[CEU][hapmap];0.83[CHB][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11638378	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11852524	0.91[CEU][hapmap];0.82[CHB][hapmap];0.95[YRI][hapmap]
rs12437460	0.80[EUR][1000 genomes]
rs12438444	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12438856	0.81[EUR][1000 genomes]
rs12439479	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12440323	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12440534	0.80[CEU][hapmap];0.81[CHB][hapmap]
rs12441004	0.80[AMR][1000 genomes]
rs12442143	0.81[EUR][1000 genomes]
rs12442701	0.80[EUR][1000 genomes]
rs12900001	0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1429556	0.87[CEU][hapmap];0.86[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs1588132	0.86[CEU][hapmap]
rs16962486	0.90[AFR][1000 genomes]
rs16962490	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16962528	0.81[EUR][1000 genomes]
rs16973952	0.81[EUR][1000 genomes]
rs17401417	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1904317	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs2413942	0.88[ASN][1000 genomes]
rs2413946	0.81[EUR][1000 genomes]
rs2413954	0.81[CEU][hapmap]
rs28460471	0.80[EUR][1000 genomes]
rs2899433	0.81[EUR][1000 genomes]
rs4316697	0.87[CEU][hapmap];0.86[CHB][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs4321137	0.80[EUR][1000 genomes]
rs4614670	0.81[EUR][1000 genomes]
rs4775803	0.81[CEU][hapmap]
rs4775811	0.80[EUR][1000 genomes]
rs520949	0.82[CHB][hapmap]
rs57186766	0.80[EUR][1000 genomes]
rs58284238	0.80[EUR][1000 genomes]
rs58410445	0.81[EUR][1000 genomes]
rs586758	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs6493364	0.81[CEU][hapmap];0.88[ASN][1000 genomes]
rs6493369	0.91[CEU][hapmap];0.82[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493371	0.81[EUR][1000 genomes]
rs7166049	0.81[EUR][1000 genomes]
rs7166498	0.81[EUR][1000 genomes]
rs7167041	0.81[EUR][1000 genomes]
rs7170426	0.81[EUR][1000 genomes]
rs8026236	0.81[EUR][1000 genomes]
rs8031892	0.86[AFR][1000 genomes]
rs8032650	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs8034747	0.87[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs8039062	0.80[EUR][1000 genomes]
rs8041781	0.82[CEU][hapmap]
rs9920772	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9972329	0.81[EUR][1000 genomes]
rs9972429	0.81[EUR][1000 genomes]
rs9972565	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12913745	GALK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49703000-49709600	Weak transcription	Fetal Lung	lung
2	chr15:49703400-49707400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:49703600-49707200	Weak transcription	NHDF-Ad	bronchial

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