Variant report

Variant	rs72719512
Chromosome Location	chr1:171722236-171722237
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr1:171722081-171722373	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:171721967-171722365	K562	blood:	n/a	n/a
3	FOS	chr1:171722081-171722384	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:171722129-171722363	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:171722131-171722329	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171721220..171722938-chr1:171748942..171751864,2	K562	blood:
2	chr1:171720537..171722745-chr1:171723955..171725815,2	K562	blood:
3	chr1:171710837..171713389-chr1:171720682..171723071,4	K562	blood:
4	chr1:171722184..171727474-chr1:171729363..171734018,7	K562	blood:
5	chr1:171714902..171716862-chr1:171721473..171724148,2	K562	blood:
6	chr1:171710699..171713555-chr1:171719677..171724483,6	MCF-7	breast:
7	chr1:171719352..171723049-chr1:171749265..171752646,3	MCF-7	breast:
8	chr1:171721245..171723879-chr1:171723986..171725815,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232261	TF binding region
ENSG00000010165	Chromatin interaction
ENSG00000271459	Chromatin interaction
ENSG00000236741	Chromatin interaction
ENSG00000117533	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12021915	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12022661	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12024194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024335	0.85[EUR][1000 genomes]
rs12028096	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12034114	0.92[EUR][1000 genomes]
rs12036980	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12089083	0.91[ASN][1000 genomes]
rs16843227	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2421910	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57300412	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58081399	0.88[ASN][1000 genomes]
rs61413126	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6659266	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6665590	0.88[ASN][1000 genomes]
rs6665614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72717895	0.92[EUR][1000 genomes]
rs72717900	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7554793	0.89[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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171712000-171723400	Weak transcription	Lung	lung
2	chr1:171713600-171722800	Weak transcription	HMEC	breast
3	chr1:171718600-171723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:171720800-171724800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:171721000-171725600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:171721200-171722800	Weak transcription	NHDF-Ad	bronchial
7	chr1:171721600-171722800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:171721600-171723000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:171722200-171722600	Enhancers	K562	blood
10	chr1:171722200-171724800	Enhancers	NHLF	lung

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