Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30522245..30525192-chr13:30528354..30530435,2	K562	blood:
2	chr13:30513452..30517431-chr13:30524367..30526986,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17587764	1.00[YRI][hapmap]
rs490221	0.97[EUR][1000 genomes]
rs494911	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs515442	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs524155	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs545360	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs546514	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs552745	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs561605	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs563520	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs597242	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs602909	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs605458	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs610545	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs624506	1.00[YRI][hapmap]
rs630535	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs640583	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs645966	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs653257	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs669073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs927734	1.00[YRI][hapmap]

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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30517400-30526000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr13:30518600-30528600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr13:30523200-30529400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:30524400-30528200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:30524800-30527400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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