Variant report

Variant	rs313723
Chromosome Location	chr1:86248399-86248400
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10747323	0.82[AMR][1000 genomes]
rs1094353	0.86[AMR][1000 genomes]
rs1094360	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12037294	0.92[ASN][1000 genomes]
rs12410754	0.81[ASN][1000 genomes]
rs12758966	0.92[ASN][1000 genomes]
rs1360239	0.82[AMR][1000 genomes]
rs1481200	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1617458	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17128293	1.00[ASN][1000 genomes]
rs1764287	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1764295	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1775985	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1775986	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1775987	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1775989	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1775992	0.92[ASN][1000 genomes]
rs1775993	0.92[ASN][1000 genomes]
rs1813656	0.84[AMR][1000 genomes]
rs2014733	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2026772	0.82[AMR][1000 genomes]
rs2389973	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2389974	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2970548	0.92[ASN][1000 genomes]
rs313724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313725	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399547	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs429040	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4379699	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs444875	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4949918	0.82[AMR][1000 genomes]
rs6686719	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6694808	0.82[AMR][1000 genomes]
rs7521240	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7533395	0.81[AMR][1000 genomes]
rs821377	0.81[ASN][1000 genomes]
rs821378	0.92[ASN][1000 genomes]
rs821380	0.92[ASN][1000 genomes]
rs821382	0.92[ASN][1000 genomes]
rs821383	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs821385	0.85[ASN][1000 genomes]
rs821387	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs821388	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs821390	0.92[ASN][1000 genomes]
rs821397	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs821400	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs821403	0.92[ASN][1000 genomes]
rs821404	0.92[ASN][1000 genomes]
rs849158	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9324152	0.92[ASN][1000 genomes]
rs9651138	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9661608	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9661951	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9701898	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9793556	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv999743	chr1:86241246-86364846	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86222800-86254400	Weak transcription	Fetal Lung	lung
2	chr1:86239800-86253800	Weak transcription	GM12878-XiMat	blood
3	chr1:86244600-86251400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86246200-86251000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:86246400-86249200	Strong transcription	Primary hematopoietic stem cells	blood
6	chr1:86248200-86251400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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