Variant report

Variant	rs12519818
Chromosome Location	chr5:112772041-112772042
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr5:112771751-112772349	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112771582..112773208-chr5:112822674..112824229,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YTHDC2-1	chr5:112771263-112772871	ENSG00000232633.3

Variant related genes	Relation type
TSSK1B	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10900685	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1116547	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11241201	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11241206	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11241209	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11738075	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11738215	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11741916	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11741963	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11750945	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12152879	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12516418	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12519753	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12523255	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1517209	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1586943	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17135597	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17135608	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17135616	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17135630	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1833678	0.81[ASN][1000 genomes]
rs2416281	0.82[ASN][1000 genomes]
rs3846721	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3846722	0.89[ASN][1000 genomes]
rs4122546	0.84[ASN][1000 genomes]
rs4705551	0.82[ASN][1000 genomes]
rs4705814	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4705817	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705818	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4705819	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59954246	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66490974	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs66497221	0.86[ASN][1000 genomes]
rs66502937	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66583752	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66644309	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66728961	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67103739	0.89[ASN][1000 genomes]
rs67268709	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67303814	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67764628	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6861786	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6864528	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6878001	0.89[ASN][1000 genomes]
rs6879800	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882900	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6883441	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6888602	0.81[EUR][1000 genomes]
rs72792179	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73236478	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73241779	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73247445	0.82[ASN][1000 genomes]
rs7707443	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7717000	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs957777	0.82[ASN][1000 genomes]
rs9800316	0.97[AMR][1000 genomes];0.99[EUR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112762000-112786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112764400-112779200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:112764600-112786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112764800-112786800	Weak transcription	NHEK	skin
5	chr5:112770200-112773800	Enhancers	Fetal Stomach	stomach
6	chr5:112770400-112772200	Enhancers	Fetal Muscle Leg	muscle
7	chr5:112770400-112783400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:112770600-112773600	Enhancers	Fetal Heart	heart
9	chr5:112770600-112786800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:112770800-112773000	Enhancers	Fetal Brain Male	brain
11	chr5:112770800-112773600	Enhancers	Fetal Lung	lung
12	chr5:112771400-112772200	Enhancers	Fetal Brain Female	brain
13	chr5:112772000-112775200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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