Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:171734034..171736178-chr1:171746102..171748315,3	K562	blood:
2	chr1:171715364..171718014-chr1:171745246..171747698,2	MCF-7	breast:
3	chr1:171738793..171741623-chr1:171744714..171746793,2	K562	blood:
4	chr1:171738704..171740744-chr1:171745299..171748129,2	MCF-7	breast:
5	chr1:171738793..171742009-chr1:171745293..171748243,3	K562	blood:
6	chr1:171742778..171746827-chr1:171748449..171752347,7	K562	blood:

Variant related genes	Relation type
ENSG00000010165	Chromatin interaction

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10913680	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058617	1.00[EUR][1000 genomes]
rs12090298	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16843624	1.00[EUR][1000 genomes]
rs2232807	0.90[LWK][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs41476749	1.00[EUR][1000 genomes]
rs55703533	1.00[EUR][1000 genomes]
rs55835861	1.00[EUR][1000 genomes]
rs57282067	1.00[EUR][1000 genomes]
rs57446042	1.00[EUR][1000 genomes]
rs58982503	1.00[EUR][1000 genomes]
rs59060176	1.00[EUR][1000 genomes]
rs59123048	1.00[EUR][1000 genomes]
rs59256724	1.00[EUR][1000 genomes]
rs59351676	1.00[EUR][1000 genomes]
rs59949348	1.00[EUR][1000 genomes]
rs60443600	1.00[EUR][1000 genomes]
rs60495803	1.00[EUR][1000 genomes]
rs60897561	1.00[EUR][1000 genomes]
rs61013259	1.00[EUR][1000 genomes]
rs61296253	1.00[EUR][1000 genomes]
rs61328888	1.00[EUR][1000 genomes]
rs61359014	1.00[EUR][1000 genomes]
rs6688701	1.00[EUR][1000 genomes]
rs6698195	1.00[EUR][1000 genomes]
rs6703372	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs73041915	1.00[EUR][1000 genomes]
rs73041916	1.00[EUR][1000 genomes]
rs73041963	1.00[EUR][1000 genomes]
rs73041964	1.00[EUR][1000 genomes]
rs73044063	1.00[EUR][1000 genomes]
rs74126542	1.00[EUR][1000 genomes]
rs74126543	1.00[EUR][1000 genomes]
rs74126545	1.00[EUR][1000 genomes]
rs9970108	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171740000-171749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:171745400-171749400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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