Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10801283	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10921484	0.91[EUR][1000 genomes]
rs10921488	0.83[EUR][1000 genomes]
rs10921489	0.93[EUR][1000 genomes]
rs10921492	0.96[EUR][1000 genomes]
rs12028846	0.93[EUR][1000 genomes]
rs12073039	0.86[EUR][1000 genomes]
rs12750617	0.92[EUR][1000 genomes]
rs12755187	0.93[EUR][1000 genomes]
rs1323088	0.99[EUR][1000 genomes]
rs1323089	0.99[EUR][1000 genomes]
rs13374626	0.92[EUR][1000 genomes]
rs1442422	0.98[EUR][1000 genomes]
rs2197134	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2584258	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4657898	0.92[EUR][1000 genomes]
rs4657899	0.93[EUR][1000 genomes]
rs4657901	0.97[EUR][1000 genomes]
rs4657903	0.83[EUR][1000 genomes]
rs488612	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.99[ASN][1000 genomes]
rs597957	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs677459	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7521863	0.91[EUR][1000 genomes]
rs9943286	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv872835	chr1:194014041-194051568	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1001872	chr1:194030479-194288016	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv872836	chr1:194032486-194130204	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194039400-194045200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:194042800-194045800	Enhancers	Colon Smooth Muscle	Colon
3	chr1:194043800-194054000	Weak transcription	Fetal Heart	heart
4	chr1:194044400-194046800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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