Variant report

Variant	rs172469
Chromosome Location	chr8:96132395-96132396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96131982..96134440-chr8:96140057..96142530,2	MCF-7	breast:
2	chr8:96103659..96105406-chr8:96132239..96133747,2	K562	blood:
3	chr8:96129270..96131823-chr8:96132202..96134637,3	MCF-7	breast:
4	chr8:96125718..96127342-chr8:96131199..96133073,2	K562	blood:
5	chr8:96130669..96134901-chr8:96143652..96147150,3	MCF-7	breast:
6	chr8:96131679..96134773-chr8:96142918..96145954,3	MCF-7	breast:
7	chr8:96125842..96128566-chr8:96131199..96132912,2	K562	blood:

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10102994	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10808672	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11781181	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1466169	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1561714	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1561715	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1975425	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2044034	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2583365	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2599726	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4392868	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4735344	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4735345	0.90[EUR][1000 genomes]
rs4735347	0.88[EUR][1000 genomes]
rs4735350	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56617377	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6983365	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6987741	0.96[EUR][1000 genomes]
rs7000568	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7000734	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7002233	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs732280	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7822998	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7836804	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7845016	0.93[AMR][1000 genomes];0.99[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr8:96126000-96136200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:96126600-96133800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:96128000-96145200	Weak transcription	A549	lung
4	chr8:96128200-96133400	Weak transcription	Left Ventricle	heart
5	chr8:96129000-96141200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:96129200-96141200	Weak transcription	NHEK	skin
7	chr8:96130800-96132400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:96130800-96133000	Weak transcription	GM12878-XiMat	blood
9	chr8:96132000-96134000	Enhancers	Primary monocytes fromperipheralblood	blood

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