Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:142634982..142637716-chr5:142639568..142643122,4	K562	blood:

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

rs_ID	r²[population]
rs10482634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10482655	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10482682	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745958	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11750172	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17209216	1.00[ASN][1000 genomes]
rs17209251	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17209258	1.00[JPT][hapmap]
rs17287745	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17339455	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17399352	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2013935	1.00[ASN][1000 genomes]
rs2398631	0.97[ASN][1000 genomes]
rs2963156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs33944801	1.00[ASN][1000 genomes]
rs35501467	1.00[JPT][hapmap]
rs4912906	0.94[ASN][1000 genomes]
rs4912908	0.89[ASN][1000 genomes]
rs4986593	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs62375463	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62375499	1.00[ASN][1000 genomes]
rs62375502	1.00[ASN][1000 genomes]
rs9324916	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv33748	chr5:142638267-142699595	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4912903	NR3C1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142640400-142643600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:142640600-142642600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:142640600-142643400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:142640600-142643400	Enhancers	HMEC	breast
5	chr5:142640800-142643200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:142640800-142643400	Enhancers	NHLF	lung
7	chr5:142641000-142643000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:142641200-142642600	Enhancers	Osteobl	bone
9	chr5:142641200-142642800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:142641200-142643400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:142641400-142642600	Enhancers	NH-A	brain
12	chr5:142641600-142642600	ZNF genes & repeats	GM12878-XiMat	blood
13	chr5:142641600-142643000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:142641800-142643000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:142641800-142643200	Enhancers	A549	lung
16	chr5:142642400-142642800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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