Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:124330870..124332833-chr12:124334337..124336740,2	MCF-7	breast:
2	chr12:124325505..124327128-chr12:124330558..124333209,2	K562	blood:
3	chr12:124329999..124332885-chr12:124332920..124335378,2	K562	blood:
4	chr12:124331556..124334545-chr12:124336250..124337801,2	K562	blood:

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

rs_ID	r²[population]
rs10773040	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap];0.80[TSI][hapmap];0.96[ASN][1000 genomes]
rs10773043	0.82[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs10846563	0.80[ASN][1000 genomes]
rs10846565	0.84[JPT][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap]
rs10846566	0.82[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs11057374	0.82[CHB][hapmap];0.89[JPT][hapmap];0.80[MKK][hapmap]
rs11057375	0.82[CHB][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap];0.80[ASN][1000 genomes]
rs11057379	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11057380	0.86[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs1882488	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs1922257	0.82[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs7138100	0.82[CHB][hapmap];0.84[JPT][hapmap];0.81[MKK][hapmap]
rs7300162	0.86[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap];0.85[MKK][hapmap];0.80[ASN][1000 genomes]
rs7314963	0.82[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs7959043	0.81[ASN][1000 genomes]
rs7960854	0.94[ASW][hapmap];0.81[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];0.81[MEX][hapmap];0.80[TSI][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7961179	0.82[CHB][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs7962016	0.81[ASN][1000 genomes]
rs7977713	0.81[CEU][hapmap]
rs7980570	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10846561	SIRT4	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124326000-124341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124329400-124332800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:124331400-124352800	Weak transcription	Fetal Brain Female	brain

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