Variant report

Variant	rs4463193
Chromosome Location	chr5:167095678-167095679
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10516036	0.89[EUR][1000 genomes]
rs11134467	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11950863	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12521170	0.83[ASN][1000 genomes]
rs1380166	0.95[EUR][1000 genomes]
rs1459074	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1459075	0.91[AMR][1000 genomes]
rs1459076	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17068914	0.84[AMR][1000 genomes]
rs17068925	0.96[EUR][1000 genomes]
rs17068972	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2243779	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs279385	0.81[AMR][1000 genomes]
rs279386	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs279408	0.87[ASN][1000 genomes]
rs279409	0.87[ASN][1000 genomes]
rs4351166	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4431367	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4432913	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4463194	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4546405	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4993461	0.85[ASN][1000 genomes]
rs4993462	0.85[ASN][1000 genomes]
rs56116300	0.88[EUR][1000 genomes]
rs57372018	0.95[EUR][1000 genomes]
rs6555764	0.85[ASN][1000 genomes]
rs6863828	0.85[ASN][1000 genomes]
rs6885086	0.83[ASN][1000 genomes]
rs6885448	0.83[ASN][1000 genomes]
rs7718412	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7723247	0.85[ASN][1000 genomes]
rs7725107	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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2763892	chr5:167080980-167101161	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167090600-167115800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:167090800-167097800	Weak transcription	A549	lung
3	chr5:167091000-167096600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:167092000-167096400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:167093200-167096400	Weak transcription	Fetal Lung	lung
6	chr5:167093200-167097800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:167093200-167100400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:167093400-167100400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:167094200-167096600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:167095400-167097800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:167095600-167096200	Weak transcription	HSMM	muscle

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