Variant report

Variant	rs2463020
Chromosome Location	chr12:105172707-105172708
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	chr12:105172416..105175180-chr12:105175349..105177504,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1002803	0.87[CEU][hapmap]
rs1038968	0.90[EUR][1000 genomes]
rs10507184	0.94[CEU][hapmap]
rs1155994	0.94[CEU][hapmap]
rs1316594	0.84[EUR][1000 genomes]
rs1389609	0.81[EUR][1000 genomes]
rs1389610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1389611	0.92[EUR][1000 genomes]
rs1389612	0.94[CEU][hapmap]
rs1474459	0.94[CEU][hapmap]
rs1565813	0.87[CEU][hapmap]
rs1565815	0.84[EUR][1000 genomes]
rs2004806	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2047124	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2088019	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2131806	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2245927	0.84[EUR][1000 genomes]
rs2245929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245931	0.84[EUR][1000 genomes]
rs2248012	0.94[CEU][hapmap]
rs2453154	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2453155	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs2453156	0.88[CEU][hapmap]
rs2453158	0.82[EUR][1000 genomes]
rs2453161	0.82[CEU][hapmap]
rs2453166	0.94[CEU][hapmap]
rs2453167	0.84[EUR][1000 genomes]
rs2453168	0.81[EUR][1000 genomes]
rs2463016	0.84[EUR][1000 genomes]
rs2463017	0.84[EUR][1000 genomes]
rs2463018	0.82[CEU][hapmap]
rs2463019	0.82[CEU][hapmap]
rs2463025	0.84[EUR][1000 genomes]
rs2463429	0.81[EUR][1000 genomes]
rs2463431	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2463432	0.84[EUR][1000 genomes]
rs2463433	0.84[EUR][1000 genomes]
rs2463434	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2463435	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2463437	0.87[CEU][hapmap]
rs2463438	0.88[CEU][hapmap]
rs2463439	0.88[CEU][hapmap]
rs2463440	0.87[CEU][hapmap]
rs2463441	0.82[CEU][hapmap]
rs2463442	0.88[CEU][hapmap]
rs2463443	0.89[CEU][hapmap]
rs2463444	0.89[CEU][hapmap]
rs2468082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468083	0.81[EUR][1000 genomes]
rs2468089	0.94[CEU][hapmap]
rs2468099	0.94[CEU][hapmap]
rs2468105	0.94[CEU][hapmap]
rs2468109	0.82[CEU][hapmap]
rs2468110	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs2468112	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2565167	0.84[EUR][1000 genomes]
rs2642109	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2642110	0.81[EUR][1000 genomes]
rs2642116	0.84[EUR][1000 genomes]
rs2730291	0.87[CEU][hapmap]
rs2730295	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2731030	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6539167	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6539170	0.94[CEU][hapmap]
rs703681	0.82[CEU][hapmap]
rs903247	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.87[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2463020	CHST11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105170800-105174000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:105171600-105172800	Enhancers	Ovary	ovary
3	chr12:105172000-105173400	Weak transcription	Pancreas	Pancrea

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