Variant report

Variant	rs28463559
Chromosome Location	chr1:47571905-47571906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10890460	0.84[EUR][1000 genomes]
rs10890462	0.83[EUR][1000 genomes]
rs10890464	0.84[EUR][1000 genomes]
rs10890465	0.84[EUR][1000 genomes]
rs10890466	0.83[EUR][1000 genomes]
rs10890467	0.83[EUR][1000 genomes]
rs1110425	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11211439	0.80[EUR][1000 genomes]
rs11211450	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11211454	0.82[EUR][1000 genomes]
rs11211455	0.83[EUR][1000 genomes]
rs11211456	0.80[EUR][1000 genomes]
rs11211457	0.84[EUR][1000 genomes]
rs11211459	0.82[EUR][1000 genomes]
rs12037014	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12042073	0.83[EUR][1000 genomes]
rs12046348	0.83[EUR][1000 genomes]
rs12124648	0.83[EUR][1000 genomes]
rs12734327	0.84[EUR][1000 genomes]
rs1847222	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1847223	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1847224	0.84[EUR][1000 genomes]
rs1967756	0.84[EUR][1000 genomes]
rs1967757	0.84[EUR][1000 genomes]
rs28462300	0.83[EUR][1000 genomes]
rs3117713	0.83[EUR][1000 genomes]
rs3850876	0.83[EUR][1000 genomes]
rs4314923	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926777	0.81[EUR][1000 genomes]
rs4926785	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926786	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926787	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926788	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926789	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926791	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926792	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926793	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926797	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926802	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4926804	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926805	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4926806	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4926807	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4926808	0.82[AMR][1000 genomes]
rs4926809	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4926826	0.84[EUR][1000 genomes]
rs4926869	0.82[EUR][1000 genomes]
rs6588388	0.80[EUR][1000 genomes]
rs6588389	0.82[EUR][1000 genomes]
rs6664392	0.84[EUR][1000 genomes]
rs6664496	0.84[EUR][1000 genomes]
rs6669621	0.80[EUR][1000 genomes]
rs6669799	0.82[EUR][1000 genomes]
rs6675902	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6683137	0.80[EUR][1000 genomes]
rs6690005	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6693145	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6701611	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6704068	0.82[EUR][1000 genomes]
rs7512729	0.83[EUR][1000 genomes]
rs7519903	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7522639	0.82[EUR][1000 genomes]
rs7526674	0.84[EUR][1000 genomes]
rs7540264	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7545399	0.84[EUR][1000 genomes]
rs7547893	0.85[EUR][1000 genomes]
rs9633421	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv870705	chr1:47533705-47620126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871010	chr1:47533705-47637999	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870899	chr1:47548974-47637999	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv13964	chr1:47565590-47574182	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47557800-47573800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:47570600-47573600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:47570800-47572400	Weak transcription	NHEK	skin
4	chr1:47570800-47573200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:47571000-47572200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:47571000-47572200	Weak transcription	HMEC	breast

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