Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54784126..54785998-chr2:54916607..54919364,2	K562	blood:
2	chr2:54783616..54785998-chr2:54916607..54919364,3	K562	blood:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10169328	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10170283	0.85[CEU][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10175711	0.97[ASN][1000 genomes]
rs13396897	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13399055	0.93[EUR][1000 genomes]
rs13401431	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs13422098	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2229506	1.00[JPT][hapmap]
rs354232	0.90[YRI][hapmap]
rs3769331	1.00[CEU][hapmap]
rs3820856	0.91[EUR][1000 genomes]
rs59370148	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60307496	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6545438	0.90[YRI][hapmap]
rs6705193	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6740018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748715	1.00[CEU][hapmap];0.86[TSI][hapmap]
rs72911575	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72911576	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72913521	0.93[EUR][1000 genomes]
rs7560775	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7561112	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7583633	1.00[CEU][hapmap]
rs907136	0.86[CHD][hapmap];1.00[JPT][hapmap]

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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv963149	chr2:54914350-54920863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54908800-54921400	Weak transcription	Lung	lung
2	chr2:54911000-54918600	Weak transcription	HepG2	liver
3	chr2:54911000-54919000	Weak transcription	Pancreas	Pancrea
4	chr2:54915200-54918800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:54915400-54918800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:54915600-54918800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:54916200-54919000	Weak transcription	Stomach Mucosa	stomach

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