Variant report

Variant	rs17123574
Chromosome Location	chr12:60602584-60602585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60556765..60558299-chr12:60600713..60603668,2	K562	blood:
2	chr12:60567397..60569705-chr12:60602116..60603911,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17123432	0.93[EUR][1000 genomes]
rs17123453	0.93[EUR][1000 genomes]
rs17123464	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17123473	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17123496	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17123529	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3912929	0.93[EUR][1000 genomes]
rs55897976	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56145591	1.00[EUR][1000 genomes]
rs56739047	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59254378	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59465291	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60106464	0.93[EUR][1000 genomes]
rs60652670	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73363801	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73365606	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73370714	1.00[EUR][1000 genomes]
rs73370721	1.00[EUR][1000 genomes]
rs73370795	1.00[EUR][1000 genomes]
rs73370797	1.00[EUR][1000 genomes]
rs73370800	1.00[EUR][1000 genomes]
rs74093673	0.93[EUR][1000 genomes]
rs74093676	0.93[EUR][1000 genomes]
rs74096730	0.93[EUR][1000 genomes]
rs74096918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74096923	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74096924	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74096934	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74096935	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74096939	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74096943	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74096947	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74096948	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74096953	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74096958	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7965723	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60586000-60603400	Weak transcription	HMEC	breast
2	chr12:60599400-60603400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:60599600-60603200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:60599600-60603400	Weak transcription	K562	blood
5	chr12:60599600-60606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:60599600-60645400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:60600200-60603400	Weak transcription	A549	lung

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