Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127885455..127887398-chr7:127907036..127909723,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10243710	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10264361	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10276311	0.87[EUR][1000 genomes]
rs1376349	0.89[EUR][1000 genomes]
rs2021808	0.89[EUR][1000 genomes]
rs2122627	0.85[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167271	0.85[CEU][hapmap];1.00[EUR][1000 genomes]
rs28954080	1.00[EUR][1000 genomes]
rs28954101	1.00[EUR][1000 genomes]
rs4236625	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4731424	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs4731427	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6976458	0.82[EUR][1000 genomes]
rs7788818	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7795794	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs791603	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs791604	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs791606	0.84[EUR][1000 genomes]
rs791607	0.86[EUR][1000 genomes]
rs791608	0.86[EUR][1000 genomes]
rs791609	0.86[EUR][1000 genomes]
rs791616	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs791617	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs791620	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127878600-127887400	Weak transcription	Right Atrium	heart
2	chr7:127881400-127887400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:127885600-127887800	Enhancers	Adipose Nuclei	Adipose
4	chr7:127886800-127887800	Enhancers	Fetal Muscle Trunk	muscle
5	chr7:127886800-127888000	Enhancers	Fetal Muscle Leg	muscle
6	chr7:127886800-127889200	Enhancers	Placenta	Placenta
7	chr7:127887000-127887800	Enhancers	HSMMtube	muscle

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