Variant report

Variant	rs2434250
Chromosome Location	chr5:94688036-94688037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10061291	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1162860	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1162861	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1363428	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1363429	0.82[AMR][1000 genomes]
rs17084604	0.89[YRI][hapmap]
rs181880	0.80[CEU][hapmap];0.84[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1820041	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs185249	0.83[AMR][1000 genomes]
rs1895248	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1895249	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2194089	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2432174	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2434251	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs253708	0.82[ASN][1000 genomes]
rs253712	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2546102	0.85[ASN][1000 genomes]
rs2546103	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2546104	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs255961	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs255962	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs255963	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs255964	0.85[ASN][1000 genomes]
rs255965	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs255966	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs255967	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs255968	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2560278	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs26393	0.87[JPT][hapmap]
rs26394	0.87[JPT][hapmap]
rs26395	0.87[JPT][hapmap]
rs2731834	0.81[ASN][1000 genomes]
rs2731835	0.82[ASN][1000 genomes]
rs2731837	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs27767	0.87[JPT][hapmap]
rs33365	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33366	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33367	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33811	0.87[JPT][hapmap]
rs33892	1.00[JPT][hapmap]
rs396185	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs403916	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41121	0.80[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs6882948	0.89[YRI][hapmap]
rs7727956	0.88[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432752	chr5:94524244-94691044	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2434250	C5orf27	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94684400-94688400	Weak transcription	Fetal Brain Male	brain

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