Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197846538..197849323-chr1:197868745..197871219,2	K562	blood:
2	chr1:197844025..197847806-chr1:197870226..197873656,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203724	Chromatin interaction

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

rs_ID	r²[population]
rs1039286	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10733088	1.00[AMR][1000 genomes]
rs1472498	0.90[ASW][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs1499594	1.00[AMR][1000 genomes]
rs1499595	1.00[AMR][1000 genomes]
rs1580811	1.00[AMR][1000 genomes]
rs1747819	0.90[ASW][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs1775455	1.00[AMR][1000 genomes]
rs2221133	1.00[AMR][1000 genomes]
rs2255086	1.00[AMR][1000 genomes]
rs2477062	0.90[ASW][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2488399	1.00[AMR][1000 genomes]
rs2488407	1.00[AMR][1000 genomes]
rs4529735	1.00[JPT][hapmap]
rs4628536	0.83[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4915247	1.00[AMR][1000 genomes]
rs4915252	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4915571	1.00[AMR][1000 genomes]
rs733876	0.90[ASW][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs942437	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs953508	1.00[AMR][1000 genomes]
rs957939	1.00[AMR][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	nsv999662	chr1:197821769-197892803	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	esv2762214	chr1:197821769-197897496	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv1004130	chr1:197822757-197879728	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7518074	MOSC2	trans	lymphoblastoid	seeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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