Variant report

Variant	rs2973403
Chromosome Location	chr5:89460396-89460397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:89450263..89452091-chr5:89459803..89462765,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10045007	0.97[ASN][1000 genomes]
rs10052749	0.94[ASN][1000 genomes]
rs10053595	0.98[ASN][1000 genomes]
rs10053649	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1526168	0.94[ASN][1000 genomes]
rs1880761	0.94[ASN][1000 genomes]
rs1997127	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2366398	0.92[ASN][1000 genomes]
rs2920509	0.87[AMR][1000 genomes]
rs2920511	0.94[ASN][1000 genomes]
rs2950044	0.90[ASW][hapmap];0.88[CHD][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.90[AMR][1000 genomes]
rs36130966	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916674	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56232437	1.00[ASN][1000 genomes]
rs6452872	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452873	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452874	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899159	0.94[ASN][1000 genomes]
rs7707262	1.00[ASN][1000 genomes]
rs7722387	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293535	0.97[ASN][1000 genomes]
rs930544	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv882362	chr5:89437963-89604380	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3336986	chr5:89450723-89482244	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv830391	chr5:89456582-89641195	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89457600-89464600	Weak transcription	Right Atrium	heart
2	chr5:89458400-89460400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:89459800-89461000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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