Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10157232	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10752948	0.87[ASN][1000 genomes]
rs10798004	0.82[EUR][1000 genomes]
rs10798006	0.82[EUR][1000 genomes]
rs10911707	0.87[EUR][1000 genomes]
rs10911708	0.80[EUR][1000 genomes]
rs12044943	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2207518	0.98[ASN][1000 genomes]
rs2207519	0.98[ASN][1000 genomes]
rs2224027	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281416	0.89[EUR][1000 genomes]
rs6656019	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6665186	0.98[ASN][1000 genomes]
rs66845254	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687774	0.89[EUR][1000 genomes]
rs6689206	0.97[ASN][1000 genomes]
rs7512337	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531487	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7545878	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548599	0.98[ASN][1000 genomes]
rs997283	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1008247	chr1:185321360-185345771	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10158623	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185319600-185335600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:185325400-185336400	Weak transcription	Right Atrium	heart
3	chr1:185328200-185334800	Weak transcription	Esophagus	oesophagus
4	chr1:185328200-185335200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:185330400-185335200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:185330600-185335600	Weak transcription	HUVEC	blood vessel
7	chr1:185330800-185334800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:185332200-185333200	Enhancers	GM12878-XiMat	blood

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