Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5324413..5326678-chr5:5352715..5354487,2	K562	blood:
2	chr5:5348766..5350935-chr5:5352991..5354581,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11745463	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs11748854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11750848	0.98[ASN][1000 genomes]
rs13172631	0.96[ASN][1000 genomes]
rs16875467	0.96[ASN][1000 genomes]
rs16875474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16875480	0.98[ASN][1000 genomes]
rs16875486	0.98[ASN][1000 genomes]
rs16875493	0.98[ASN][1000 genomes]
rs16875502	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16875503	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1863939	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs41418444	0.98[ASN][1000 genomes]
rs55758531	0.96[ASN][1000 genomes]
rs55930845	0.96[ASN][1000 genomes]
rs57657417	1.00[ASN][1000 genomes]
rs60591667	1.00[ASN][1000 genomes]
rs66550117	0.98[ASN][1000 genomes]
rs67531547	0.98[ASN][1000 genomes]
rs6886866	1.00[EUR][1000 genomes]
rs72726093	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5345000-5354800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:5345200-5355600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:5352000-5356800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:5352600-5362200	Weak transcription	Hela-S3	cervix
5	chr5:5353000-5358200	Weak transcription	Pancreas	Pancrea
6	chr5:5353200-5354400	Weak transcription	Fetal Kidney	kidney
7	chr5:5353200-5355600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:5353200-5360200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:5353200-5361400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:5353800-5354200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr5:5353800-5354400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:5354000-5354200	Bivalent Enhancer	K562	blood
13	chr5:5354000-5354600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr5:5354000-5361000	Enhancers	HepG2	liver

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