Variant report

Variant	rs1517138
Chromosome Location	chr4:148381553-148381554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10305860	0.87[ASN][1000 genomes]
rs10305862	0.87[ASN][1000 genomes]
rs11100963	0.99[ASN][1000 genomes]
rs11722878	0.82[ASN][1000 genomes]
rs11722942	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727337	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727397	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730985	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731096	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11731097	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11731134	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509416	0.97[ASN][1000 genomes]
rs12642328	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13109203	0.86[ASN][1000 genomes]
rs13109209	0.86[ASN][1000 genomes]
rs13112065	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127894	0.91[ASN][1000 genomes]
rs13138887	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13143677	0.80[ASN][1000 genomes]
rs13144507	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1366688	0.97[ASN][1000 genomes]
rs1400558	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400559	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400560	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517134	0.84[ASN][1000 genomes]
rs1517139	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801708	0.87[ASN][1000 genomes]
rs1808038	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1808039	0.81[ASN][1000 genomes]
rs1949375	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996373	0.84[ASN][1000 genomes]
rs1996374	0.86[ASN][1000 genomes]
rs2063936	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34256803	0.99[ASN][1000 genomes]
rs35686091	0.99[ASN][1000 genomes]
rs36129328	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4631019	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835081	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835083	0.87[ASN][1000 genomes]
rs4835084	0.87[ASN][1000 genomes]
rs4835401	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835405	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835410	0.87[ASN][1000 genomes]
rs56015601	0.87[ASN][1000 genomes]
rs6537479	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6537480	0.88[ASN][1000 genomes]
rs6810637	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6817469	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6820938	0.88[ASN][1000 genomes]
rs6823537	0.87[ASN][1000 genomes]
rs6835512	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6840108	0.91[ASN][1000 genomes]
rs6840784	0.91[ASN][1000 genomes]
rs6853791	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6855875	0.85[ASN][1000 genomes]
rs702757	0.87[ASN][1000 genomes]
rs7659823	0.88[ASN][1000 genomes]
rs7663891	0.87[ASN][1000 genomes]
rs9308218	0.87[ASN][1000 genomes]
rs952402	0.87[ASN][1000 genomes]
rs959600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984457	0.87[ASN][1000 genomes]
rs984458	0.87[ASN][1000 genomes]
rs9991584	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 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	chr4:148381200-148382000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:148381200-148383400	Enhancers	NHEK	skin
3	chr4:148381400-148383200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:148381400-148383200	Enhancers	HMEC	breast
5	chr4:148381400-148383400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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