Variant report

Variant	rs28653505
Chromosome Location	chr4:87498116-87498117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87491871..87493629-chr4:87496523..87499181,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10516775	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10516776	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1344260	0.90[EUR][1000 genomes]
rs17011953	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011954	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011956	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011959	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011962	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011965	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011966	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011968	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011978	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011981	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011984	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011985	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011988	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011994	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17012007	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17012009	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17012010	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17012012	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17012018	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17419783	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17454369	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2170427	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2200052	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2219993	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28648374	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2869442	0.90[EUR][1000 genomes]
rs2869443	0.90[EUR][1000 genomes]
rs2904103	0.90[EUR][1000 genomes]
rs34155193	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35434858	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4561893	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4604024	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4627823	0.90[EUR][1000 genomes]
rs61121590	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61344492	0.90[EUR][1000 genomes]
rs72870675	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72872208	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72872209	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7690137	0.90[EUR][1000 genomes]
rs980637	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs980638	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv879522	chr4:87473776-87644842	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv822635	chr4:87479576-87622176	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87480600-87502000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:87480800-87501800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:87492200-87499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:87493000-87499200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:87493800-87507000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:87496600-87512600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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