Variant report

Variant	rs2860040
Chromosome Location	chr11:26494465-26494466
allele	C/T
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	EP300	chr11:26494394-26494715	GM12878	blood:	n/a	n/a
2	BATF	chr11:26494420-26494627	GM12878	blood:	n/a	n/a
3	BCL11A	chr11:26494385-26494642	GM12878	blood:	n/a	n/a
4	FOXM1	chr11:26494283-26494718	GM12878	blood:	n/a	n/a
5	NFIC	chr11:26494267-26494791	GM12878	blood:	n/a	n/a
6	RUNX3	chr11:26494251-26494739	GM12878	blood:	n/a	n/a
7	EP300	chr11:26494369-26494667	GM12878	blood:	n/a	n/a
8	EP300	chr11:26493793-26495855	SK-N-SH	brain:	n/a	chr11:26495343-26495350 chr11:26494900-26494910 chr11:26493862-26493870 chr11:26495799-26495813

Variant related genes	Relation type
ANO3	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10767536	0.82[EUR][1000 genomes]
rs10767537	0.81[EUR][1000 genomes]
rs10767540	0.80[EUR][1000 genomes]
rs10767541	0.80[EUR][1000 genomes]
rs10767545	0.81[EUR][1000 genomes]
rs10834983	0.80[EUR][1000 genomes]
rs10834984	0.80[EUR][1000 genomes]
rs10834985	0.80[EUR][1000 genomes]
rs10834986	0.81[GIH][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs10834987	0.80[EUR][1000 genomes]
rs10834988	0.80[EUR][1000 genomes]
rs10834989	0.80[EUR][1000 genomes]
rs10834990	0.80[EUR][1000 genomes]
rs10834992	0.80[EUR][1000 genomes]
rs10834993	0.80[EUR][1000 genomes]
rs10834994	0.80[EUR][1000 genomes]
rs10834996	0.81[EUR][1000 genomes]
rs10834997	0.81[EUR][1000 genomes]
rs11029571	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11029574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11029576	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11029577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11029582	0.86[YRI][hapmap]
rs11029583	0.86[YRI][hapmap]
rs11029588	0.80[EUR][1000 genomes]
rs1125621	0.81[GIH][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs1125622	0.80[EUR][1000 genomes]
rs1125623	0.80[EUR][1000 genomes]
rs1125624	0.80[EUR][1000 genomes]
rs12290380	0.81[EUR][1000 genomes]
rs1355131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355132	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461371	0.89[ASW][hapmap]
rs1493739	0.82[MEX][hapmap]
rs1602938	0.80[EUR][1000 genomes]
rs1602939	0.80[EUR][1000 genomes]
rs2087974	0.86[CEU][hapmap];0.98[GIH][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs294015	0.82[TSI][hapmap]
rs294018	0.82[TSI][hapmap]
rs294028	0.82[TSI][hapmap]
rs4418757	0.81[EUR][1000 genomes]
rs4923360	0.82[EUR][1000 genomes]
rs7119659	1.00[CEU][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128699	0.81[EUR][1000 genomes]
rs721258	0.86[CEU][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72889134	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7929215	0.80[EUR][1000 genomes]
rs7929544	0.80[EUR][1000 genomes]
rs7935953	0.80[EUR][1000 genomes]
rs7942067	0.89[GIH][hapmap];0.86[YRI][hapmap]
rs7944026	0.80[EUR][1000 genomes]
rs7944034	0.80[EUR][1000 genomes]
rs903155	0.81[GIH][hapmap]
rs922246	0.89[ASW][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	nsv1051211	chr11:26473131-26604553	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv467778	chr11:26485520-26603926	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv553899	chr11:26485520-26603926	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv521916	chr11:26485520-26605331	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26472000-26503600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:26488200-26494800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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