Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79579962..79582569-chr5:79583098..79584798,2	K562	blood:

Variant related genes	Relation type
ENSG00000249438	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10074004	0.86[ASN][1000 genomes]
rs10075671	0.86[ASN][1000 genomes]
rs10942916	1.00[ASN][1000 genomes]
rs11738136	0.88[ASN][1000 genomes]
rs11749041	0.96[ASN][1000 genomes]
rs12519081	1.00[ASN][1000 genomes]
rs12653544	0.84[ASN][1000 genomes]
rs12655682	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12657791	0.86[ASN][1000 genomes]
rs12658132	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12659957	0.86[ASN][1000 genomes]
rs13159554	0.86[ASN][1000 genomes]
rs13163577	0.86[ASN][1000 genomes]
rs13180593	0.96[ASN][1000 genomes]
rs13188686	0.96[ASN][1000 genomes]
rs2112156	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28508166	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36034781	0.96[ASN][1000 genomes]
rs56289111	0.96[ASN][1000 genomes]
rs62364038	1.00[ASN][1000 genomes]
rs6859566	0.93[ASN][1000 genomes]
rs6868653	0.81[ASN][1000 genomes]
rs6886552	0.98[ASN][1000 genomes]
rs6890238	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72778016	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv522634	chr5:79577760-79580818	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv964902	chr5:79578051-79585364	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv518863	chr5:79578797-79580818	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79578200-79580600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:79580200-79580600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr5:79580200-79581000	Enhancers	Fetal Thymus	thymus
4	chr5:79580200-79581000	Enhancers	Thymus	Thymus
5	chr5:79580400-79580600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:79580400-79581000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:79580400-79581200	Enhancers	Primary T cells from cord blood	blood
8	chr5:79580400-79581200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr5:79580400-79581200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr5:79580400-79581200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr5:79580400-79581200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:79580400-79581400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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