Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160331889..160334678-chr3:160367548..160370147,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1047210	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs10936203	0.81[JPT][hapmap]
rs11706810	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs17236473	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs17570467	0.88[JPT][hapmap]
rs17826221	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs17826257	0.81[JPT][hapmap]
rs1882126	0.88[JPT][hapmap]
rs1920650	0.83[AFR][1000 genomes]
rs1920652	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920659	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3732706	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3851365	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3851366	0.88[JPT][hapmap]
rs4679654	0.81[ASN][1000 genomes]
rs4679895	0.87[ASN][1000 genomes]
rs6798668	0.88[JPT][hapmap]
rs6808083	0.88[JPT][hapmap]
rs7634826	0.88[JPT][hapmap]
rs7640072	0.88[JPT][hapmap]
rs7648393	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9816525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822982	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9857106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	nsv877703	chr3:160325458-160398885	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1920649	SMC4	Cis_1M	lymphoblastoid	RTeQTL
rs1920649	TMEM212	trans	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160331000-160334600	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:160332000-160334200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:160333600-160336200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:160333800-160335600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:160334000-160334400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:160334000-160335000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:160334000-160335000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:160334000-160335000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:160334000-160335000	Enhancers	NH-A	brain
10	chr3:160334000-160335200	Enhancers	NHEK	skin
11	chr3:160334000-160335400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:160334000-160335400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:160334000-160335400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:160334000-160335400	Enhancers	HMEC	breast
15	chr3:160334000-160336200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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