Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:113821396..113823877-chr1:113823880..113825871,3	K562	blood:
2	chr1:113819909..113822767-chr1:113822781..113826301,3	MCF-7	breast:
3	chr1:113816895..113819833-chr1:113821409..113824351,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1082073	0.88[EUR][1000 genomes]
rs1082075	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1082076	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12139764	0.88[EUR][1000 genomes]
rs12567182	0.88[EUR][1000 genomes]
rs699670	0.94[EUR][1000 genomes]
rs7531795	0.89[ASN][1000 genomes]
rs773553	0.80[ASN][1000 genomes]
rs773555	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs773558	0.94[EUR][1000 genomes]
rs773559	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs773561	0.90[EUR][1000 genomes]
rs773562	0.93[EUR][1000 genomes]
rs773563	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs773565	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs773575	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs773576	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs773577	0.94[EUR][1000 genomes]
rs773578	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs773583	0.93[EUR][1000 genomes]
rs773585	0.93[EUR][1000 genomes]
rs773589	0.92[EUR][1000 genomes]
rs773591	0.92[EUR][1000 genomes]
rs773595	0.91[EUR][1000 genomes]
rs773596	0.92[EUR][1000 genomes]
rs773597	0.80[EUR][1000 genomes];0.94[ASN][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	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs773564	CYB561D1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113819400-113826200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:113822000-113825200	Enhancers	Fetal Intestine Small	intestine
3	chr1:113822400-113825000	Enhancers	Fetal Intestine Large	intestine
4	chr1:113822600-113824400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:113822600-113824400	Enhancers	Pancreas	Pancrea
6	chr1:113823400-113825600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:113823800-113824400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr1:113823800-113825000	Enhancers	Colon Smooth Muscle	Colon
9	chr1:113824200-113827000	Enhancers	Fetal Kidney	kidney

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