Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39333342..39335144-chr14:39336605..39338510,2	K562	blood:

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10483546	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11157021	0.99[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11157022	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12432214	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17108400	1.00[CEU][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs17108424	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17108452	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17401680	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73281372	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv564416	chr14:39140536-39440106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv470631	chr14:39153764-39440106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv932194	chr14:39173578-39411337	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39334800-39339000	Enhancers	Brain Cingulate Gyrus	brain
2	chr14:39334800-39340000	Enhancers	Brain Hippocampus Middle	brain
3	chr14:39334800-39340200	Enhancers	Brain Substantia Nigra	brain
4	chr14:39336200-39338400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr14:39336600-39337800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:39336600-39339800	Enhancers	Stomach Mucosa	stomach
7	chr14:39336600-39340000	Enhancers	Fetal Kidney	kidney
8	chr14:39336800-39339200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:39337000-39338600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr14:39337000-39342400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:39337200-39338400	Weak transcription	Brain Angular Gyrus	brain
12	chr14:39337400-39339000	Enhancers	Fetal Lung	lung
13	chr14:39337400-39339000	Enhancers	HUVEC	blood vessel
14	chr14:39337600-39337800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:39337600-39338000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr14:39337600-39338200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:39337600-39338200	Active TSS	Brain Anterior Caudate	brain
18	chr14:39337600-39338200	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr14:39337600-39338200	Flanking Active TSS	HepG2	liver
20	chr14:39337600-39338400	Enhancers	Fetal Intestine Large	intestine
21	chr14:39337600-39338400	Enhancers	Pancreas	Pancrea
22	chr14:39337600-39338600	Flanking Active TSS	Liver	Liver

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