Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60483051..60485415-chr5:60488357..60490268,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10052753	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10054247	0.87[EUR][1000 genomes]
rs10055076	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10075959	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10076568	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11741431	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11744226	0.85[EUR][1000 genomes]
rs11745179	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11745233	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11745696	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11750566	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11954384	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13181515	0.85[ASN][1000 genomes]
rs13181517	0.85[ASN][1000 genomes]
rs13183007	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13183464	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13186053	0.85[EUR][1000 genomes]
rs13190305	0.83[EUR][1000 genomes]
rs159365	0.93[ASN][1000 genomes]
rs28409386	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34635	0.93[ASN][1000 genomes]
rs35185283	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9291707	0.84[AMR][1000 genomes];0.87[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	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	esv1845980	chr5:60481408-60511495	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 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	chr5:60468600-60484400	Weak transcription	Aorta	Aorta
2	chr5:60477200-60483800	Weak transcription	Right Atrium	heart
3	chr5:60481000-60484200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:60483000-60484000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:60483200-60483600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:60483200-60483600	Weak transcription	Left Ventricle	heart
7	chr5:60483200-60484000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:60483200-60484200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:60483200-60484400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:60483200-60484400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:60483400-60483600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:60483400-60484000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:60483400-60484200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:60483400-60484200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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