Variant report

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

rs_ID	r²[population]
rs1021491	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10874427	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12756327	0.81[EUR][1000 genomes]
rs1603000	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2250806	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642186	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2792973	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792975	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4907193	0.85[AMR][1000 genomes]
rs594631	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs599686	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs603939	0.94[EUR][1000 genomes]
rs617568	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs638545	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs648856	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs650629	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs652489	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6576959	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6701486	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6703653	0.86[AMR][1000 genomes]
rs7520283	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84569200-84599600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:84584000-84592600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:84584000-84609600	Weak transcription	HSMM	muscle
4	chr1:84584000-84609800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:84587800-84594400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:84588000-84618400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:84588200-84593600	Weak transcription	Brain Substantia Nigra	brain
8	chr1:84590600-84607400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:84591400-84592400	Strong transcription	Fetal Stomach	stomach
10	chr1:84591600-84592400	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr1:84591800-84592400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:84592200-84593600	Weak transcription	Ovary	ovary

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