Variant report

Variant	rs244485
Chromosome Location	chr5:52065423-52065424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10512989	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1363958	0.89[ASN][1000 genomes]
rs1363959	0.92[ASN][1000 genomes]
rs1363960	0.92[ASN][1000 genomes]
rs1363961	0.92[ASN][1000 genomes]
rs16880141	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16880156	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16880165	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16880238	0.94[CHB][hapmap]
rs16880266	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs1820165	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1833883	0.90[ASN][1000 genomes]
rs1833884	0.88[ASN][1000 genomes]
rs193438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133476	0.89[ASN][1000 genomes]
rs2173525	0.89[ASN][1000 genomes]
rs2245991	0.94[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2245997	0.93[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs244484	0.86[ASN][1000 genomes]
rs244488	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2548503	0.92[ASN][1000 genomes]
rs2548504	0.92[ASN][1000 genomes]
rs2548505	0.92[ASN][1000 genomes]
rs2548506	0.92[ASN][1000 genomes]
rs2648732	0.87[ASN][1000 genomes]
rs2648733	0.92[ASN][1000 genomes]
rs2648734	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2648735	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs55977259	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60357834	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72752570	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72752572	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72752574	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72752575	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72752576	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72752577	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72754533	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72754535	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72754540	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72754543	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72754544	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1027410	chr5:52022713-52103360	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1024123	chr5:52052104-52089545	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1020640	chr5:52058830-52120858	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr5:52053200-52069600	Weak transcription	Right Atrium	heart
2	chr5:52063200-52065600	Enhancers	Dnd41	blood
3	chr5:52063600-52066800	Weak transcription	Primary T cells from cord blood	blood
4	chr5:52064600-52067000	Weak transcription	GM12878-XiMat	blood
5	chr5:52065000-52067200	Weak transcription	Fetal Thymus	thymus

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