Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78445331..78447338-chr14:78448935..78452086,3	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12894998	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs177224	0.80[ASN][1000 genomes]
rs177226	0.89[AMR][1000 genomes]
rs177229	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs177232	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs177238	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs177239	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs177243	0.85[ASN][1000 genomes]
rs1955571	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4903678	0.97[ASN][1000 genomes]
rs4903686	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4903687	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4903688	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4903689	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6574416	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140733	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7146614	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7152858	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7153421	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7160437	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8019668	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8021165	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][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	esv34345	chr14:78370455-78496587	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2757576	chr14:78379156-78502019	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759999	chr14:78379156-78502019	Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8022316	NRXN3	cis	intralobular white matter	BrainEAC

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78447600-78451600	Weak transcription	Lung	lung
2	chr14:78447800-78450400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:78447800-78450400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:78447800-78451000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:78447800-78451400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:78447800-78451400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:78447800-78457200	Weak transcription	Fetal Thymus	thymus
8	chr14:78448000-78450800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:78448000-78451600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:78448000-78451600	Weak transcription	Adipose Nuclei	Adipose
11	chr14:78448200-78450600	Weak transcription	Brain Anterior Caudate	brain
12	chr14:78448200-78451200	Weak transcription	Fetal Lung	lung
13	chr14:78448600-78451400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:78449000-78450400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:78449200-78450600	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:78449200-78450800	Weak transcription	Brain Substantia Nigra	brain
17	chr14:78449800-78450200	Weak transcription	Dnd41	blood
18	chr14:78450000-78450400	Weak transcription	Brain Angular Gyrus	brain

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