Variant report

Variant	rs17132295
Chromosome Location	chr7:48429111-48429112
allele	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:26)

rs_ID	r²[population]
rs11972317	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11973519	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1368653	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1526093	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17132278	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17132286	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17172282	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17661929	0.88[ASN][1000 genomes]
rs1830106	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1880739	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2117091	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4145714	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4145715	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4342545	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4917118	0.95[AFR][1000 genomes]
rs6583405	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66509041	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67033930	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs67631839	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6946995	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6955132	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6958878	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6966454	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7780299	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7795985	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7803797	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv533811	chr7:48313757-48482470	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1015399	chr7:48321542-48544359	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv5733	chr7:48387046-48434029	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv2761325	chr7:48409639-48557382	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48413200-48432600	Weak transcription	Spleen	Spleen
2	chr7:48424400-48429400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:48427000-48430200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:48427200-48429400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:48427400-48429600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:48428400-48429200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:48428600-48429200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:48428600-48429600	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:48428600-48431200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr7:48428600-48432800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:48429000-48429600	Weak transcription	Fetal Thymus	thymus
12	chr7:48429000-48430400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:48429000-48430600	Enhancers	HMEC	breast
14	chr7:48429000-48431400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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