Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr6:25649784-25650230	A549	lung:	n/a	n/a
2	FOXA2	chr6:25649873-25650189	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25639036..25640680-chr6:25649432..25650985,2	K562	blood:

Variant related genes	Relation type
SCGN	TF binding region

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

rs_ID	r²[population]
rs10456325	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195457	1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12201249	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12216281	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1410443	1.00[CHB][hapmap]
rs1884575	1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs212929	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs212935	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs212939	1.00[CHB][hapmap]
rs453181	1.00[CHB][hapmap]
rs6913169	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918563	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72840515	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72840523	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72840524	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72840525	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7741026	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9467544	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9467555	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv883488	chr6:25592489-25731691	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers 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	1215 gene(s)	inside rSNPs	diseases
4	nsv427747	chr6:25641380-25908218	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1883257	LRRC16	cis	lesional skin	skin_eQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25641200-25651800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:25643800-25651400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:25649000-25652000	Enhancers	Brain Germinal Matrix	brain
4	chr6:25649200-25650000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:25649800-25650400	Enhancers	A549	lung
6	chr6:25649800-25650400	Enhancers	HepG2	liver

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