Variant report

Variant	rs1415858
Chromosome Location	chr6:133557441-133557442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10872402	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12190309	0.95[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12192839	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12193038	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12193158	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12202540	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12204996	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12206438	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17301249	0.83[CHD][hapmap];0.81[TSI][hapmap]
rs2180729	0.94[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28620929	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3756869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3756871	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3756872	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777785	0.95[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3777796	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3777799	0.85[CEU][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55947866	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56377439	0.93[EUR][1000 genomes]
rs62430275	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6569873	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6912995	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6927143	0.90[ASN][1000 genomes]
rs6940510	0.81[ASN][1000 genomes]
rs7746298	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7750376	0.84[CEU][hapmap]
rs7752905	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7754501	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7763647	0.80[EUR][1000 genomes]
rs9321393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9373038	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9373041	0.95[CEU][hapmap];0.84[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9373045	0.81[TSI][hapmap]
rs9373046	0.82[CHD][hapmap];0.80[TSI][hapmap]
rs9375942	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9375943	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375948	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9375949	0.95[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9375955	0.81[CHD][hapmap];0.81[TSI][hapmap]
rs9385640	0.95[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9385641	0.95[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9389052	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9389059	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9389060	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9389061	0.95[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9389062	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9399052	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9399053	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9399054	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9402484	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9402485	0.80[EUR][1000 genomes]
rs9402486	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9402487	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9402489	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9402493	0.95[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9402494	0.95[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9402497	0.95[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9402498	0.81[EUR][1000 genomes]
rs9483560	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9493554	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758080	chr6:133444719-133627364	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2759470	chr6:133444719-133627364	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv470862	chr6:133492507-133600402	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv886678	chr6:133550279-133631190	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv5483	chr6:133554303-133599338	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1415858	HBS1L	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133557000-133558000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:133557200-133559800	Enhancers	Hela-S3	cervix
3	chr6:133557400-133557600	Enhancers	Fetal Lung	lung
4	chr6:133557400-133558400	Enhancers	NHLF	lung

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