Variant report

Variant	rs2168988
Chromosome Location	chr5:167104317-167104318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10035233	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11949815	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521170	0.81[AMR][1000 genomes]
rs1563729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2546988	0.88[ASW][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes]
rs2609854	1.00[JPT][hapmap];0.84[YRI][hapmap]
rs279408	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs279409	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4582299	0.80[ASN][1000 genomes]
rs4587095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4993460	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4993461	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4993462	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4993463	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59834824	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6555764	0.82[AMR][1000 genomes]
rs6555765	0.81[AMR][1000 genomes]
rs6860687	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6863828	0.81[AMR][1000 genomes]
rs6885086	0.81[AMR][1000 genomes]
rs6885448	0.81[AMR][1000 genomes]
rs6885478	0.82[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7704071	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7704222	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7704469	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7723247	1.00[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7724248	0.81[AMR][1000 genomes]
rs7725107	0.96[MEX][hapmap];0.86[TSI][hapmap]

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	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
4	nsv5115	chr5:167101911-167147020	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 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	chr5:167098000-167105200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:167098400-167105400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:167102800-167104400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:167104200-167104800	Weak transcription	Fetal Lung	lung

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