Variant report

Variant	rs478450
Chromosome Location	chr1:120233922-120233923
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1163251	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2764886	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs483360	0.81[EUR][1000 genomes]
rs487081	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs487884	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs496195	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs496198	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs511059	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs514491	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs517533	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs539708	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs541503	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs561931	0.80[EUR][1000 genomes]
rs592762	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs594400	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs595283	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs597308	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs598685	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs606312	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs611365	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs612430	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs627707	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs629735	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs639216	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs639761	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs640195	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs658442	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs660073	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs662243	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs677277	0.82[EUR][1000 genomes]
rs839600	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs839605	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs839608	0.84[EUR][1000 genomes]
rs866321	0.85[EUR][1000 genomes];0.85[ASN][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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120232400-120239400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:120232400-120243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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