Variant report

Variant	rs1472623
Chromosome Location	chr5:115108261-115108262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10044983	0.91[EUR][1000 genomes]
rs10053898	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10060156	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10061410	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10061579	0.81[EUR][1000 genomes]
rs10066093	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10066139	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10067787	0.87[EUR][1000 genomes]
rs10067851	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10069142	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10076240	0.87[EUR][1000 genomes]
rs10076383	0.81[EUR][1000 genomes]
rs10077593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10079490	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1014496	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10214181	0.86[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1422286	0.91[EUR][1000 genomes]
rs2080903	0.87[EUR][1000 genomes]
rs2098631	0.91[EUR][1000 genomes]
rs249488	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4920890	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4920891	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4921023	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4921024	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5028205	0.88[EUR][1000 genomes]
rs5028206	0.84[EUR][1000 genomes]
rs56104345	0.91[EUR][1000 genomes]
rs59276809	0.88[EUR][1000 genomes]
rs62371714	0.91[EUR][1000 genomes]
rs62371715	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6869363	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs731649	0.91[ASW][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs731650	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706913	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs995495	0.86[EUR][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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1024641	chr5:115030110-115123474	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1021139	chr5:115036724-115131280	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115091800-115117200	Weak transcription	Liver	Liver
2	chr5:115106200-115109000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:115106400-115108800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:115106400-115112000	Enhancers	Fetal Muscle Leg	muscle
5	chr5:115107200-115111200	Enhancers	Adipose Nuclei	Adipose
6	chr5:115107600-115108600	Weak transcription	Ovary	ovary
7	chr5:115107600-115111200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:115108200-115109200	Enhancers	Right Atrium	heart
9	chr5:115108200-115111000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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