Variant report

Variant	rs530459
Chromosome Location	chr6:114232551-114232552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114226817..114229049-chr6:114230509..114233303,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1407459	0.85[JPT][hapmap]
rs2243356	0.80[JPT][hapmap]
rs2475631	0.85[JPT][hapmap]
rs2499618	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs2810162	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2810163	0.80[EUR][1000 genomes]
rs352063	0.85[JPT][hapmap]
rs352093	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs352095	0.92[CEU][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs352096	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs352098	0.92[CEU][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs45695	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs471595	0.94[EUR][1000 genomes]
rs486167	0.92[CEU][hapmap];0.83[CHB][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs498519	0.83[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.87[LWK][hapmap];0.82[MKK][hapmap]
rs499349	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs512727	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs514949	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs530433	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs546087	0.92[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs548148	0.92[CEU][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs551673	0.96[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs552557	0.96[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs560836	0.96[EUR][1000 genomes]
rs563502	0.95[EUR][1000 genomes]
rs568317	0.96[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs580820	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv830779	chr6:114206534-114246099	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114226200-114242000	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:114226600-114246000	Weak transcription	Fetal Stomach	stomach
3	chr6:114226800-114240400	Weak transcription	Left Ventricle	heart

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