Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:151436059..151438699-chr1:151467400..151469749,2	MCF-7	breast:
2	chr1:151431498..151436312-chr1:151437866..151440539,4	K562	blood:
3	chr1:151429107..151437905-chr1:151438450..151450094,72	MCF-7	breast:
4	chr1:151429172..151433890-chr1:151435781..151441025,8	MCF-7	breast:
5	chr1:151373766..151375598-chr1:151437855..151440411,2	K562	blood:
6	chr1:151436182..151439012-chr1:151480953..151482703,2	MCF-7	breast:
7	chr1:151437130..151438728-chr1:151510858..151512482,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143442	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10736380	0.84[CEU][hapmap]
rs11204819	0.84[CEU][hapmap]
rs11204824	0.84[CEU][hapmap]
rs11801791	0.84[CEU][hapmap]
rs12025432	0.84[CEU][hapmap]
rs12730283	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747749	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12751531	0.84[CEU][hapmap]
rs12760638	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1887544	0.85[CEU][hapmap]
rs1887545	0.84[CEU][hapmap]
rs2025899	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2495380	0.83[CEU][hapmap]
rs3748550	0.84[CEU][hapmap]
rs4246527	0.84[CEU][hapmap]
rs4291502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4603	0.84[CEU][hapmap]
rs4971043	0.85[CEU][hapmap]
rs4971047	0.85[CEU][hapmap]
rs6587572	0.84[CEU][hapmap]
rs6587577	0.84[CEU][hapmap]
rs6587584	0.85[CEU][hapmap]
rs6684333	0.85[CEU][hapmap]
rs71515781	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71515782	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7546151	0.84[CEU][hapmap]
rs9436029	1.00[AFR][1000 genomes]

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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12743850	SELENBP1	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151431000-151445000	Weak transcription	Spleen	Spleen
2	chr1:151432600-151445000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:151432600-151445000	Weak transcription	Pancreas	Pancrea
4	chr1:151438200-151442800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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