Variant report

Variant	rs12431676
Chromosome Location	chr14:68188351-68188352
allele	C/G
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	IRF1	chr14:68188324-68188420	K562	blood:	n/a	chr14:68188406-68188419 chr14:68188405-68188419 chr14:68188405-68188419 chr14:68188406-68188420 chr14:68188404-68188418 chr14:68188407-68188420 chr14:68188407-68188418 chr14:68188407-68188420 chr14:68188406-68188417 chr14:68188402-68188419 chr14:68188407-68188420

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68186603..68190707-chr14:68192396..68197182,7	MCF-7	breast:

Variant related genes	Relation type
RDH12	TF binding region
ENSG00000139988	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10483802	0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11622772	0.83[YRI][hapmap]
rs12100925	0.83[AMR][1000 genomes]
rs12432546	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12434923	0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12435352	0.91[ASW][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12435531	0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12435927	0.94[YRI][hapmap];0.83[AMR][1000 genomes]
rs12437263	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12590038	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12881478	0.83[YRI][hapmap]
rs15493	0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17249563	0.83[AMR][1000 genomes]
rs17836863	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1804799	0.91[ASW][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes]
rs2009590	0.91[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3759768	0.94[YRI][hapmap];0.87[AMR][1000 genomes]
rs59421018	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60851053	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs718213	0.97[EUR][1000 genomes]
rs742868	0.83[YRI][hapmap]
rs8010798	0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8013234	0.84[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs910315	0.91[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9449	0.83[YRI][hapmap]

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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr14:68184600-68188600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr14:68185000-68188800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:68185800-68188800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:68185800-68189200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:68186000-68189200	Weak transcription	Stomach Mucosa	stomach
6	chr14:68187600-68188800	Weak transcription	K562	blood
7	chr14:68187800-68189200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:68188000-68189000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:68188000-68189200	Enhancers	HepG2	liver
10	chr14:68188000-68189600	Enhancers	Ovary	ovary

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