Variant report

Variant	rs12086172
Chromosome Location	chr1:193647628-193647629
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10489940	0.88[ASN][1000 genomes]
rs10921412	0.82[CHD][hapmap]
rs10921415	0.86[ASN][1000 genomes]
rs12025400	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12064935	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12073207	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12074464	0.82[ASN][1000 genomes]
rs12082580	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12084728	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1339307	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1416601	0.86[EUR][1000 genomes]
rs1578120	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16835629	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16835631	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16835692	0.88[ASN][1000 genomes]
rs17304644	0.86[TSI][hapmap]
rs1967827	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34164974	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41419844	0.86[ASN][1000 genomes]
rs6656472	0.86[ASN][1000 genomes]
rs6672548	0.86[ASN][1000 genomes]
rs72728904	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72744046	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72744048	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72744061	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72744063	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72744067	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72744069	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7524732	0.85[EUR][1000 genomes]
rs7551855	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9628684	0.90[EUR][1000 genomes];0.85[ASN][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	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34989	chr1:193630577-193710196	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2756877	chr1:193631528-193710196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758986	chr1:193631528-193710196	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193644000-193647800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:193644400-193648800	Weak transcription	Small Intestine	intestine
3	chr1:193647000-193648200	Enhancers	Fetal Heart	heart
4	chr1:193647400-193649600	Weak transcription	Hela-S3	cervix
5	chr1:193647600-193650200	Weak transcription	Fetal Intestine Small	intestine
6	chr1:193647600-193651200	Weak transcription	Fetal Intestine Large	intestine

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