Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:134710839..134713348-chr2:134714104..134717293,3	K562	blood:
2	chr2:134704101..134707555-chr2:134709028..134712351,4	K562	blood:
3	chr2:134710313..134712523-chr2:134714582..134716942,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13424416	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16829423	1.00[EUR][1000 genomes]
rs16829506	1.00[EUR][1000 genomes]
rs16829743	1.00[EUR][1000 genomes]
rs16829792	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16829808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57028673	1.00[EUR][1000 genomes]
rs57898906	1.00[EUR][1000 genomes]
rs59601058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60573351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61465743	1.00[EUR][1000 genomes]
rs6745294	1.00[EUR][1000 genomes]
rs6753469	1.00[EUR][1000 genomes]
rs6757963	1.00[EUR][1000 genomes]
rs72999775	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72999782	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72999787	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72999793	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007661	1.00[EUR][1000 genomes]
rs73957243	1.00[EUR][1000 genomes]
rs7584447	1.00[EUR][1000 genomes]
rs7592843	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134706400-134714400	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:134707000-134713000	Enhancers	Primary B cells from cord blood	blood
3	chr2:134708200-134713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:134709800-134714000	Weak transcription	Left Ventricle	heart
5	chr2:134710200-134716800	Enhancers	Fetal Heart	heart
6	chr2:134711200-134713000	Enhancers	GM12878-XiMat	blood
7	chr2:134711400-134712400	Weak transcription	Right Ventricle	heart
8	chr2:134712200-134713200	Enhancers	Dnd41	blood
9	chr2:134712200-134713600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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