Variant report

Variant	rs6867229
Chromosome Location	chr5:43237644-43237645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43068783..43070775-chr5:43235999..43238082,2	K562	blood:
2	chr5:43221964..43224775-chr5:43236729..43238737,2	K562	blood:
3	chr5:43229559..43232274-chr5:43236155..43239075,3	K562	blood:
4	chr5:43236682..43238886-chr5:43241349..43243253,2	K562	blood:
5	chr5:43235885..43238229-chr5:43348836..43351666,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10045186	0.90[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs10045460	0.88[EUR][1000 genomes]
rs10056788	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10062177	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10066481	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10473304	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10473305	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10512819	0.82[EUR][1000 genomes]
rs10941615	1.00[CEU][hapmap]
rs13356344	0.82[EUR][1000 genomes]
rs13357845	0.91[GIH][hapmap]
rs16873170	0.82[EUR][1000 genomes]
rs28394528	0.82[EUR][1000 genomes]
rs28600138	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28697178	0.82[EUR][1000 genomes]
rs4421113	0.82[EUR][1000 genomes]
rs4428421	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55799546	0.82[EUR][1000 genomes]
rs58488720	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6868632	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6885598	0.82[EUR][1000 genomes]
rs6887169	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs72752582	0.88[EUR][1000 genomes]
rs72752598	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72752601	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73751045	0.82[EUR][1000 genomes]
rs73751047	0.82[EUR][1000 genomes]
rs7701546	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7709926	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9292866	0.82[EUR][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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
4	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
5	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43209600-43245200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:43231000-43245600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:43232200-43245400	Weak transcription	Brain Anterior Caudate	brain
5	chr5:43232800-43246000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:43233000-43238600	Weak transcription	K562	blood
7	chr5:43233000-43245200	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:43233200-43245400	Weak transcription	Brain Substantia Nigra	brain
9	chr5:43234200-43245400	Weak transcription	Brain Angular Gyrus	brain
10	chr5:43234800-43243600	Weak transcription	GM12878-XiMat	blood
11	chr5:43237200-43245600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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