Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31742163..31744413-chr12:31776690..31778709,2	MCF-7	breast:
2	chr12:31776560..31779005-chr12:31780696..31784088,3	K562	blood:

Variant related genes	Relation type
ENSG00000255867	Chromatin interaction
ENSG00000170456	Chromatin interaction

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

rs_ID	r²[population]
rs10843975	0.84[JPT][hapmap]
rs11051486	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs12305966	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1677172	0.92[ASN][1000 genomes]
rs1716207	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2374170	0.84[JPT][hapmap]
rs2625881	0.92[ASN][1000 genomes]
rs2625882	0.92[ASN][1000 genomes]
rs2625884	0.92[ASN][1000 genomes]
rs2679486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs474909	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs476864	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs477758	0.93[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs478620	0.93[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs509500	0.92[ASN][1000 genomes]
rs529303	0.93[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs538400	0.92[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs538430	0.92[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs539102	0.90[ASN][1000 genomes]
rs541856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs560239	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs569482	0.92[ASN][1000 genomes]
rs570329	0.92[ASN][1000 genomes]
rs66714830	0.82[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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:31773600-31782600	Weak transcription	A549	lung
2	chr12:31775400-31779200	Weak transcription	Fetal Intestine Small	intestine
3	chr12:31775600-31782400	Weak transcription	HSMMtube	muscle
4	chr12:31775800-31779600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:31776000-31780600	Weak transcription	Fetal Muscle Leg	muscle

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