Variant report

Variant	rs17518322
Chromosome Location	chr12:40470778-40470779
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	chr12:40462211..40465200-chr12:40469075..40471868,2	K562	blood:
2	chr12:40468895..40470933-chr12:40476626..40479292,2	K562	blood:

Variant related genes	Relation type
ENSG00000229014	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs13377779	1.00[AMR][1000 genomes]
rs17489170	1.00[AMR][1000 genomes]
rs17489267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17489295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17489309	0.80[AFR][1000 genomes]
rs17489417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17489466	1.00[AMR][1000 genomes]
rs17489522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17489583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518190	1.00[AMR][1000 genomes]
rs17518329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370687	1.00[AMR][1000 genomes]
rs28370691	1.00[AMR][1000 genomes]
rs28370710	1.00[AMR][1000 genomes]
rs28370715	1.00[AMR][1000 genomes]
rs28370716	1.00[AMR][1000 genomes]
rs28370749	1.00[AMR][1000 genomes]
rs28370751	1.00[AMR][1000 genomes]
rs28370760	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370763	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370769	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370775	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370781	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370782	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370787	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370788	1.00[AMR][1000 genomes]
rs28370789	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370791	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28740215	1.00[AMR][1000 genomes]
rs28740216	1.00[AMR][1000 genomes]
rs56193998	1.00[AMR][1000 genomes]
rs57966079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58812092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59404097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59663144	1.00[AMR][1000 genomes]
rs60755503	1.00[AMR][1000 genomes]
rs61339615	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088130	1.00[AMR][1000 genomes]
rs74088192	1.00[AMR][1000 genomes]
rs74089321	1.00[AMR][1000 genomes]
rs74091033	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:40453800-40487400	Weak transcription	Left Ventricle	heart
2	chr12:40457600-40471600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:40464400-40493200	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:40466400-40498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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