Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr11:34510508-34511126	GM12878	blood:	n/a	n/a
2	BHLHE40	chr11:34510527-34510738	GM12878	blood:	n/a	n/a
3	RELA	chr11:34510543-34511102	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34508584..34510728-chr11:34514242..34516382,2	MCF-7	breast:
2	chr11:34508412..34512527-chr11:34512601..34514689,3	MCF-7	breast:
3	chr11:34508032..34510036-chr11:34510118..34513690,3	K562	blood:

Variant related genes	Relation type
ENSG00000264667	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10836244	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11032727	0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1408035	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2284365	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2284367	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2284368	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2284369	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2420388	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3758733	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3781710	0.91[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs3781711	0.92[CEU][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4755372	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4755373	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4756148	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4756153	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756154	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6484722	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7113917	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs769217	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs769218	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[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	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs942223	CAT	cis	Whole Blood	GTEx
rs942223	CAT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34510400-34510800	Enhancers	GM12878-XiMat	blood

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