Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45504611..45507573-chr18:45509284..45511408,2	K562	blood:

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

rs_ID	r²[population]
rs4328241	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4329718	0.94[EUR][1000 genomes]
rs4331136	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4401107	0.94[EUR][1000 genomes]
rs4603334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4623931	0.94[EUR][1000 genomes]
rs56055402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916036	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72916073	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72916076	0.94[EUR][1000 genomes]
rs72916077	0.94[EUR][1000 genomes]
rs72916085	0.94[EUR][1000 genomes]
rs72916088	0.94[EUR][1000 genomes]
rs72916089	0.94[EUR][1000 genomes]
rs72916090	0.94[EUR][1000 genomes]
rs72916093	0.94[EUR][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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv978736	chr18:45504781-45511894	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1066479	chr18:45505569-45554507	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45509200-45513000	Weak transcription	HSMM	muscle
2	chr18:45509200-45514800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr18:45509400-45511000	Enhancers	Fetal Brain Male	brain
4	chr18:45509600-45511000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:45509800-45511000	Enhancers	Fetal Brain Female	brain
6	chr18:45509800-45511200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr18:45510000-45510800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr18:45510000-45511000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr18:45510000-45511200	Weak transcription	Primary B cells from cord blood	blood
10	chr18:45510200-45510800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr18:45510200-45510800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr18:45510200-45510800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:45510200-45510800	Enhancers	Brain Germinal Matrix	brain
14	chr18:45510200-45511000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr18:45510400-45511000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr18:45510400-45511200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:45510400-45523600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr18:45510600-45511000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr18:45510600-45522000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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