Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12038846	0.83[EUR][1000 genomes]
rs12042948	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12044734	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12568281	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2275571	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs315512	0.92[ASN][1000 genomes]
rs477253	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs507863	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs508767	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs548310	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs576888	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs579351	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs580171	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs585935	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs585958	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636484	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs649845	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs666062	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6696653	0.84[EUR][1000 genomes]
rs7554646	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][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	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84844000-84853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:84845600-84852400	Weak transcription	HMEC	breast
3	chr1:84845600-84857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:84845800-84851600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:84845800-84851800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:84845800-84854800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:84846400-84856000	Weak transcription	NHLF	lung
8	chr1:84848200-84852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:84848600-84852400	Weak transcription	NHEK	skin
10	chr1:84848800-84852800	Weak transcription	HUVEC	blood vessel

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