Variant report

Variant	rs7316531
Chromosome Location	chr12:9433992-9433993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr12:9433839-9434012	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:9428390..9430208-chr12:9433960..9436399,2	K562	blood:
2	chr12:9431995..9434015-chr12:9800546..9802203,2	MCF-7	breast:
3	chr12:9431917..9434887-chr12:9485752..9487325,2	MCF-7	breast:
4	chr12:9423398..9429968-chr12:9431078..9436174,6	K562	blood:
5	chr12:9423490..9426134-chr12:9432405..9434234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111788	TF binding region
ENSG00000111788	Chromatin interaction
ENSG00000256442	Chromatin interaction
ENSG00000256594	Chromatin interaction
ENSG00000256069	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10771440	0.81[EUR][1000 genomes]
rs10771443	0.81[EUR][1000 genomes]
rs10771445	0.83[EUR][1000 genomes]
rs10843242	0.84[EUR][1000 genomes]
rs10843243	0.84[EUR][1000 genomes]
rs10843244	0.84[EUR][1000 genomes]
rs11611191	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12581534	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12815281	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12816390	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12822417	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12824461	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs187536	0.84[EUR][1000 genomes]
rs194037	0.84[EUR][1000 genomes]
rs2059760	0.81[EUR][1000 genomes]
rs2059761	0.81[EUR][1000 genomes]
rs252027	0.84[EUR][1000 genomes]
rs252028	0.84[EUR][1000 genomes]
rs252029	0.84[EUR][1000 genomes]
rs252030	0.84[EUR][1000 genomes]
rs252032	0.84[EUR][1000 genomes]
rs252033	0.84[EUR][1000 genomes]
rs34332	0.81[EUR][1000 genomes]
rs34333	0.81[EUR][1000 genomes]
rs34334	0.81[EUR][1000 genomes]
rs34856550	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4883226	0.85[EUR][1000 genomes]
rs55913537	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56288591	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61916195	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7299846	0.81[EUR][1000 genomes]
rs7958291	0.81[EUR][1000 genomes]
rs7967738	0.85[EUR][1000 genomes]
rs7974378	0.81[EUR][1000 genomes]
rs7976100	0.81[EUR][1000 genomes]
rs7980256	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
7	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
8	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
10	nsv1048917	chr12:9393282-9436132	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv898739	chr12:9398365-9435244	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv976736	chr12:9431362-9524845	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs7316531	RP11-22B23.1	cis	Artery Tibial	GTEx
rs7316531	DDX12P	cis	Nerve Tibial	GTEx
rs7316531	RP11-22B23.1	cis	Thyroid	GTEx
rs7316531	RP11-22B23.1	cis	Skin Sun Exposed Lower leg	GTEx
rs7316531	DDX12P	cis	Muscle Skeletal	GTEx
rs7316531	RP11-22B23.1	cis	Nerve Tibial	GTEx
rs7316531	RP11-22B23.1	cis	Muscle Skeletal	GTEx
rs7316531	RP11-22B23.1	cis	lung	GTEx
rs7316531	RP11-22B23.1	cis	Whole Blood	GTEx
rs7316531	A2MP1	cis	Nerve Tibial	GTEx
rs7316531	A2MP1	cis	Adipose Subcutaneous	GTEx
rs7316531	DDX12P	cis	Artery Tibial	GTEx
rs7316531	DDX12P	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9429200-9435200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:9429800-9435400	Weak transcription	NHEK	skin
3	chr12:9432800-9434200	Enhancers	Liver	Liver
4	chr12:9433800-9434000	Bivalent Enhancer	A549	lung
5	chr12:9433800-9434200	Enhancers	HepG2	liver

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