Variant report

Variant	rs255857
Chromosome Location	chr5:112743066-112743067
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10037429	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10519348	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10519354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs11241202	0.93[EUR][1000 genomes]
rs11738347	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11738587	0.93[EUR][1000 genomes]
rs11739509	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11744710	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs11744737	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11746828	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11747062	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11748646	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11750254	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13161610	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13161969	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs13162970	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13166822	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13172774	1.00[CHB][hapmap]
rs13177178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13182359	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1318772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13187776	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13189851	0.84[EUR][1000 genomes]
rs164252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs17324474	0.84[EUR][1000 genomes]
rs17325908	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17326496	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17327139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17332053	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap]
rs182988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs185336	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2120348	1.00[CHB][hapmap]
rs2545359	0.83[EUR][1000 genomes]
rs2545360	0.83[EUR][1000 genomes]
rs255859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs255870	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs255871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26962	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs26965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26980	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs26982	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs26984	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs26986	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs26989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs26990	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[AFR][1000 genomes]
rs2860483	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2914151	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2914152	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34361144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34539248	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34625553	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs348919	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs348935	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs348939	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35111059	0.93[EUR][1000 genomes]
rs35451724	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35568473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36611	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36613	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3763141	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs414475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs421515	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs446272	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs458055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4705554	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4705829	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs66629800	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67344014	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67767339	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67894881	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs68189049	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6861939	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs71577443	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72788641	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72797916	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs255857	CBS	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112724400-112751200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:112741400-112746400	Weak transcription	Pancreas	Pancrea
3	chr5:112742200-112743800	Enhancers	Fetal Heart	heart

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