Variant report

Variant	rs2687627
Chromosome Location	chr2:114543194-114543195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10167730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10172842	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10177576	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10179657	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10209098	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10209330	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10496453	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11123206	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11123207	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11686297	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11694130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12613159	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12711788	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1375332	0.84[EUR][1000 genomes]
rs17040397	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2122097	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290108	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs2305255	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2442136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2595140	0.82[ASN][1000 genomes]
rs2595152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2687623	0.90[ASN][1000 genomes]
rs2687624	0.84[ASN][1000 genomes]
rs2687626	0.89[ASN][1000 genomes]
rs2687628	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2687630	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28451366	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2900744	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34332133	0.88[ASN][1000 genomes]
rs35734534	0.89[ASN][1000 genomes]
rs3816384	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs3890789	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4848343	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4848345	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4848349	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4848350	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4849270	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4849275	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849277	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849278	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4849279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6711542	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7560480	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7577893	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7600228	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2687627	RPL23AP7	cis	Muscle Skeletal	GTEx
rs2687627	RPL23AP7	cis	Artery Tibial	GTEx
rs2687627	RPL23AP7	cis	Artery Aorta	GTEx
rs2687627	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL
rs2687627	RPL23AP7	cis	Whole Blood	GTEx
rs2687627	RPL23AP7	cis	lung	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114542200-114543800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:114542400-114543200	Enhancers	Psoas Muscle	Psoas
3	chr2:114542400-114543200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:114542400-114543400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:114542400-114543400	Enhancers	Pancreas	Pancrea
6	chr2:114542600-114543400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:114542600-114543400	Enhancers	HSMM	muscle
8	chr2:114542600-114543600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:114542800-114543200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:114542800-114543200	Enhancers	HSMMtube	muscle
11	chr2:114542800-114543400	Enhancers	Liver	Liver
12	chr2:114542800-114543400	Enhancers	Fetal Muscle Leg	muscle
13	chr2:114543000-114543400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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