Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:158604594..158606609-chr1:158618169..158620977,2	K562	blood:
2	chr1:158619384..158624051-chr1:158626769..158630364,5	K562	blood:
3	chr1:158618865..158621818-chr1:158624025..158625964,2	K562	blood:
4	chr1:158617559..158620365-chr1:158624025..158625683,2	K562	blood:

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

rs_ID	r²[population]
rs1029083	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2022002	0.83[EUR][1000 genomes]
rs2157691	0.83[EUR][1000 genomes]
rs2246434	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2251963	0.83[EUR][1000 genomes]
rs2251964	0.83[EUR][1000 genomes]
rs2479868	0.83[EUR][1000 genomes]
rs2482963	0.83[EUR][1000 genomes]
rs2518489	0.83[EUR][1000 genomes]
rs2518490	0.83[EUR][1000 genomes]
rs2518491	0.83[EUR][1000 genomes]
rs2518493	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2779116	0.83[EUR][1000 genomes]
rs2852634	0.83[EUR][1000 genomes]
rs2852635	0.83[EUR][1000 genomes]
rs2852637	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs857684	0.86[EUR][1000 genomes]
rs857685	0.86[EUR][1000 genomes]
rs857691	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs857720	0.83[EUR][1000 genomes]
rs857721	0.84[EUR][1000 genomes]
rs857725	0.85[EUR][1000 genomes]
rs860772	0.86[EUR][1000 genomes]
rs861409	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863327	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3491788	chr1:158537183-158725907	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3491789	chr1:158537242-158725858	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158612200-158628800	Strong transcription	K562	blood
2	chr1:158615000-158623000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:158616600-158624400	Weak transcription	Thymus	Thymus
4	chr1:158616800-158623200	Weak transcription	Primary B cells from cord blood	blood
5	chr1:158616800-158623200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:158616800-158623400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:158617400-158622400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:158617600-158623000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:158619200-158620000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:158619400-158624400	Weak transcription	Fetal Thymus	thymus
11	chr1:158619600-158621600	Weak transcription	Fetal Heart	heart

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