Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10142466	0.90[ASN][1000 genomes]
rs11626883	0.90[ASN][1000 genomes]
rs12889006	0.87[ASN][1000 genomes]
rs1465788	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1595260	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1595261	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106304	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17835641	0.90[ASN][1000 genomes]
rs17835647	0.90[ASN][1000 genomes]
rs1836984	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs194748	0.97[ASN][1000 genomes]
rs194749	0.92[ASN][1000 genomes]
rs194778	0.93[ASN][1000 genomes]
rs2236262	0.88[ASN][1000 genomes]
rs2236263	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34489253	0.93[ASN][1000 genomes]
rs367677	0.94[ASN][1000 genomes]
rs3742887	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825568	0.88[ASN][1000 genomes]
rs4899258	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899259	0.97[ASN][1000 genomes]
rs4902651	0.90[ASN][1000 genomes]
rs6573857	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7149271	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156516	0.97[ASN][1000 genomes]
rs8011558	1.00[ASN][1000 genomes]
rs8022092	0.93[ASN][1000 genomes]
rs927292	0.83[AMR][1000 genomes];0.97[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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs194751	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69263200-69273000	Weak transcription	Ovary	ovary
2	chr14:69263200-69273200	Weak transcription	HSMM	muscle
3	chr14:69263600-69273200	Weak transcription	NH-A	brain
4	chr14:69264000-69271600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:69264200-69273200	Weak transcription	Right Atrium	heart
6	chr14:69264200-69273600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:69264400-69272600	Weak transcription	HSMMtube	muscle
9	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:69264800-69272200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:69264800-69273200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:69268000-69273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:69269000-69273200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:69269200-69273400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:69269800-69270800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:69269800-69273200	Weak transcription	Lung	lung

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