Variant report

Variant	rs7307227
Chromosome Location	chr12:124020098-124020099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124018210..124020140-chr12:124067644..124069375,2	MCF-7	breast:
2	chr12:124018963..124020649-chr12:124025084..124027162,2	MCF-7	breast:
3	chr12:124018609..124020737-chr12:124028286..124031087,2	MCF-7	breast:
4	chr12:123921165..123922728-chr12:124019054..124020967,2	K562	blood:
5	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
6	chr12:124015786..124020200-chr12:124020787..124024805,6	K562	blood:
7	chr12:123912338..123913868-chr12:124018894..124020678,2	K562	blood:
8	chr12:124018224..124020563-chr12:124065688..124070487,5	K562	blood:
9	chr12:124018351..124020362-chr12:124063140..124065356,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000247373	Chromatin interaction
ENSG00000150977	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000266655	Chromatin interaction
ENSG00000086598	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10846526	0.95[ASN][1000 genomes]
rs10846528	0.81[ASN][1000 genomes]
rs2063629	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28403439	0.90[ASN][1000 genomes]
rs28408980	0.82[ASN][1000 genomes]
rs28454032	0.95[ASN][1000 genomes]
rs28465339	0.95[ASN][1000 genomes]
rs28498381	0.83[ASN][1000 genomes]
rs28535724	0.90[ASN][1000 genomes]
rs28539789	0.95[ASN][1000 genomes]
rs28654896	0.95[ASN][1000 genomes]
rs28673982	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28711456	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28758342	0.95[ASN][1000 genomes]
rs28834793	0.81[ASN][1000 genomes]
rs4930716	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5027860	0.95[ASN][1000 genomes]
rs61953538	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61953539	0.90[ASN][1000 genomes]
rs61953543	0.90[ASN][1000 genomes]
rs61953552	0.95[ASN][1000 genomes]
rs61953557	0.95[ASN][1000 genomes]
rs71458805	0.81[ASN][1000 genomes]
rs7313179	0.84[ASN][1000 genomes]
rs7315326	0.83[ASN][1000 genomes]
rs7959727	0.83[ASN][1000 genomes]
rs7965334	0.95[ASN][1000 genomes]
rs9697543	0.81[ASN][1000 genomes]
rs9697721	0.81[ASN][1000 genomes]
rs9723048	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	esv2422416	chr12:124009676-124085689	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7307227	RP11-486O12.2	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124019400-124021000	Weak transcription	K562	blood
2	chr12:124019400-124023600	Weak transcription	HepG2	liver
3	chr12:124019400-124023800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:124019400-124028200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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