Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:40227996..40231150-chr21:40232050..40235725,3	MCF-7	breast:
2	chr21:40176800..40178913-chr21:40235378..40237558,2	K562	blood:
3	chr21:40225467..40227132-chr21:40235439..40238376,2	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11701301	1.00[ASN][1000 genomes]
rs11911369	0.81[ASN][1000 genomes]
rs17230954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17230961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2298560	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2410062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2836717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836720	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836739	0.83[CEU][hapmap]
rs28420538	1.00[JPT][hapmap]
rs28508188	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28817686	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28836833	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs414845	0.82[JPT][hapmap]
rs467698	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs467806	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57740627	0.81[ASN][1000 genomes]
rs59086904	1.00[ASN][1000 genomes]
rs714780	0.81[ASN][1000 genomes]
rs7278693	0.96[ASN][1000 genomes]
rs7279299	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7283433	0.96[ASN][1000 genomes]
rs73450548	0.81[ASN][1000 genomes]
rs73450552	0.81[ASN][1000 genomes]
rs8127274	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40226000-40242200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:40229200-40236400	Enhancers	Thymus	Thymus
3	chr21:40229600-40245400	Weak transcription	Left Ventricle	heart
4	chr21:40231600-40236200	Enhancers	Fetal Muscle Trunk	muscle
5	chr21:40232400-40237200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:40233600-40245400	Weak transcription	Right Atrium	heart
7	chr21:40235600-40235800	Enhancers	Placenta	Placenta
8	chr21:40235600-40236000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr21:40235600-40236200	Enhancers	Fetal Heart	heart
10	chr21:40235600-40247600	Weak transcription	Spleen	Spleen

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