Variant report

Variant	rs12234025
Chromosome Location	chr5:75014916-75014917
allele	A/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	POLR2A	chr5:75014801-75014959	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74796642..74799069-chr5:75014421..75017256,2	K562	blood:
2	chr5:74953873..74956590-chr5:75014538..75016068,2	K562	blood:

Variant related genes	Relation type
POC5	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10038319	0.84[EUR][1000 genomes]
rs10066858	0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs1018119	0.83[TSI][hapmap]
rs10474445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16872760	0.82[GIH][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs17672542	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1862219	0.82[GIH][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs1862220	0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1988728	0.83[TSI][hapmap]
rs2193991	0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs2216572	0.85[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs2303647	0.85[GIH][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs3815894	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56676015	0.84[EUR][1000 genomes]
rs5744566	0.83[TSI][hapmap]
rs5744567	0.83[TSI][hapmap]
rs5744612	0.83[TSI][hapmap]
rs5744661	0.83[TSI][hapmap]
rs6453140	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7730317	1.00[ASW][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs976013	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75013400-75024800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:75013800-75016400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:75013800-75016400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:75013800-75016600	Weak transcription	Liver	Liver
5	chr5:75013800-75018800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:75014000-75015600	Enhancers	K562	blood
7	chr5:75014000-75016400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:75014600-75015600	Weak transcription	HepG2	liver

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