Variant report

Variant	rs59451087
Chromosome Location	chr5:2039692-2039693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:2038968..2041290-chr5:2043648..2046348,2	K562	blood:
2	chr5:2038885..2040468-chr5:2043552..2045148,2	K562	blood:
3	chr5:2038798..2040363-chr5:2040372..2041930,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10041900	0.80[ASN][1000 genomes]
rs10063608	0.92[ASN][1000 genomes]
rs10070010	0.91[ASN][1000 genomes]
rs13163790	0.90[ASN][1000 genomes]
rs13173751	0.91[ASN][1000 genomes]
rs13183483	0.92[ASN][1000 genomes]
rs13355393	0.86[ASN][1000 genomes]
rs4529249	0.91[ASN][1000 genomes]
rs4975807	0.80[ASN][1000 genomes]
rs4975840	0.82[ASN][1000 genomes]
rs57229263	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6555046	0.91[ASN][1000 genomes]
rs6884854	0.89[EUR][1000 genomes]
rs73037992	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73037994	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7711582	0.87[EUR][1000 genomes]
rs7714134	0.80[ASN][1000 genomes]
rs9312974	0.80[ASN][1000 genomes]
rs9312975	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427705	chr5:1950467-2115059	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv596900	chr5:2020274-2066165	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3420746	chr5:2037777-2040325	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3323423	chr5:2038102-2040300	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1028582	chr5:2038130-2063667	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1032941	chr5:2038130-2072872	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2038800-2039800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:2038800-2040600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:2039000-2039800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:2039000-2039800	Bivalent Enhancer	Fetal Stomach	stomach
5	chr5:2039000-2039800	Enhancers	Pancreas	Pancrea
6	chr5:2039000-2039800	Enhancers	HMEC	breast
7	chr5:2039000-2039800	Enhancers	NHEK	skin
8	chr5:2039200-2039800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:2039200-2039800	Enhancers	Right Ventricle	heart
10	chr5:2039200-2040200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:2039200-2040200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:2039400-2039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:2039400-2039800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:2039400-2040400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:2039600-2039800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:2039600-2039800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:2039600-2039800	Enhancers	Fetal Thymus	thymus
18	chr5:2039600-2040400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:2039600-2040400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:2039600-2041800	Weak transcription	Fetal Heart	heart

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