Variant report

Variant	rs2450081
Chromosome Location	chr8:120084408-120084409
allele	A/G
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	MYC	chr8:120084344-120084551	MCF-7	breast:	n/a	chr8:120084399-120084409
2	RUNX3	chr8:120084194-120084554	GM12878	blood:	n/a	n/a
3	EBF1	chr8:120084156-120084545	GM12878	blood:	n/a	n/a
4	MYC	chr8:120084202-120084572	NB4	blood:	n/a	chr8:120084399-120084409
5	BATF	chr8:120084307-120084565	GM12878	blood:	n/a	n/a
6	BATF	chr8:120084212-120084619	GM12878	blood:	n/a	n/a
7	EBF1	chr8:120084195-120084565	GM12878	blood:	n/a	n/a
8	IKZF1	chr8:120084352-120084518	GM12878	blood:	n/a	n/a
9	EBF1	chr8:120084162-120084601	GM12878	blood:	n/a	n/a
10	RFX5	chr8:120084298-120084545	GM12878	blood:	n/a	n/a
11	SP1	chr8:120084332-120084601	GM12878	blood:	n/a	n/a
12	MAX	chr8:120084196-120084607	NB4	blood:	n/a	chr8:120084399-120084409
13	RUNX3	chr8:120084189-120084595	GM12878	blood:	n/a	n/a
14	BHLHE40	chr8:120084277-120084641	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254278	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11777125	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11992453	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13261635	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385491	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1485291	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1485292	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1485299	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1485300	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1549415	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1905774	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2450060	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2450063	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2450071	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2450073	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2450074	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2450075	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2450077	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2450079	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2465370	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2465372	0.81[EUR][1000 genomes]
rs2465373	0.81[EUR][1000 genomes]
rs2465377	0.81[EUR][1000 genomes]
rs2465386	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2465388	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2465389	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2465397	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2468167	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2468169	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2468171	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2468172	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2468173	0.81[EUR][1000 genomes]
rs4279627	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62532199	0.84[ASN][1000 genomes]
rs6469812	0.85[ASN][1000 genomes]
rs6469813	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469814	0.85[ASN][1000 genomes]
rs6469816	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6991747	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7013461	0.88[ASN][1000 genomes]
rs7386676	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9650076	0.84[EUR][1000 genomes];0.91[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120080600-120085200	Weak transcription	Fetal Stomach	stomach
2	chr8:120083000-120084600	Enhancers	Osteobl	bone
3	chr8:120083400-120084600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:120083600-120084600	Enhancers	NHDF-Ad	bronchial
5	chr8:120084000-120084600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:120084200-120084600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:120084200-120084600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:120084400-120084600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:120084400-120084600	Enhancers	NHLF	lung

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