Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46542684..46544753-chr3:46554640..46556935,2	K562	blood:
2	chr3:46547294..46549950-chr3:46554092..46556061,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12492797	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1814973	0.81[ASN][1000 genomes]
rs1879328	0.86[ASN][1000 genomes]
rs2888531	0.82[ASN][1000 genomes]
rs34334514	0.88[ASN][1000 genomes]
rs34478154	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34504121	0.87[ASN][1000 genomes]
rs35714147	0.87[ASN][1000 genomes]
rs4683243	0.86[ASN][1000 genomes]
rs55786118	0.86[ASN][1000 genomes]
rs55990714	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59264692	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67227548	0.83[ASN][1000 genomes]
rs6791703	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68018913	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7428292	0.86[ASN][1000 genomes]
rs7621549	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7632776	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9827559	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9839075	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9848284	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];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	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv963257	chr3:46553551-46557829	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46541000-46557600	Weak transcription	Left Ventricle	heart
2	chr3:46541000-46580200	Weak transcription	Fetal Heart	heart
3	chr3:46541200-46562200	Weak transcription	Right Ventricle	heart
4	chr3:46544800-46556000	Weak transcription	Psoas Muscle	Psoas
5	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
6	chr3:46545600-46558000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:46545600-46559200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:46549200-46585400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:46549400-46579000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:46549600-46578600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:46551800-46555800	Enhancers	K562	blood
12	chr3:46553200-46558000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:46553200-46558000	Weak transcription	HSMMtube	muscle
14	chr3:46555000-46567800	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:46555400-46561800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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