Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141543323..141545960-chr3:141593829..141595582,2	K562	blood:

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction

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

rs_ID	r²[population]
rs13065862	0.97[EUR][1000 genomes]
rs13071985	0.86[EUR][1000 genomes]
rs13076009	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13085196	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2138790	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2681692	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2681693	0.84[EUR][1000 genomes]
rs2681699	0.91[EUR][1000 genomes]
rs2681700	0.91[EUR][1000 genomes]
rs33928105	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34212237	0.83[EUR][1000 genomes]
rs34902798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35026516	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35204030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35249682	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35355622	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35652193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35805003	0.85[EUR][1000 genomes]
rs36009541	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55769955	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56361763	0.85[EUR][1000 genomes]
rs71304105	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226676	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141534800-141547800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:141539800-141547000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:141544200-141545800	Enhancers	Hela-S3	cervix
4	chr3:141544800-141547000	Weak transcription	NHEK	skin
5	chr3:141544800-141547200	Weak transcription	HMEC	breast
6	chr3:141544800-141547200	Weak transcription	HSMM	muscle
7	chr3:141544800-141547800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:141544800-141547800	Weak transcription	Adipose Nuclei	Adipose
9	chr3:141544800-141547800	Weak transcription	Esophagus	oesophagus
10	chr3:141544800-141550800	Weak transcription	Right Atrium	heart
11	chr3:141545000-141547000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:141545000-141547200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:141545000-141547200	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:141545000-141547800	Weak transcription	Psoas Muscle	Psoas
15	chr3:141545600-141547200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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