Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:21334599..21336705-chr9:21337057..21341673,5	MCF-7	breast:
2	chr9:21336962..21338707-chr9:21339878..21341386,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198642	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10117677	0.82[CEU][hapmap];0.80[YRI][hapmap]
rs10125010	0.87[MEX][hapmap]
rs10738591	0.82[CHB][hapmap]
rs10757213	0.82[CEU][hapmap];0.86[CHB][hapmap];0.92[YRI][hapmap]
rs10811522	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs10811523	0.82[CEU][hapmap];0.87[MEX][hapmap]
rs10964953	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs10964956	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs12237982	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1224392	0.87[ASN][1000 genomes]
rs12683349	0.82[CEU][hapmap];0.82[CHB][hapmap];0.92[YRI][hapmap]
rs1330313	0.81[CEU][hapmap];0.90[CHB][hapmap]
rs1330314	0.80[ASW][hapmap];0.81[CHB][hapmap];0.82[MEX][hapmap]
rs1467734	0.82[CEU][hapmap];0.92[YRI][hapmap]
rs1467735	0.82[CEU][hapmap];0.82[CHB][hapmap];0.92[YRI][hapmap]
rs1467736	0.82[CEU][hapmap];0.82[CHB][hapmap];0.88[YRI][hapmap]
rs1543874	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs2094787	0.82[CEU][hapmap];0.82[CHB][hapmap];0.87[MEX][hapmap]
rs2094788	0.82[CEU][hapmap];0.82[CHB][hapmap];0.87[MEX][hapmap]
rs2480927	0.87[ASN][1000 genomes]
rs3758236	0.82[CHB][hapmap]
rs600118	0.94[ASN][1000 genomes]
rs616873	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs667069	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7031048	0.82[CHB][hapmap]
rs7849623	0.83[MEX][hapmap]
rs7868334	0.87[MEX][hapmap]
rs8729	1.00[ASW][hapmap];0.82[CEU][hapmap];0.87[MEX][hapmap];0.92[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	nsv892736	chr9:21327141-21391698	Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10119678	KLHL9	cis	multi-tissue	Pritchard
rs10119678	KLHL9	cis	lymphoblastoid	seeQTL
rs10119678	ADRBK1	trans	cerebellum	SCAN
rs10119678	KLHL9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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