Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30656122..30657927-chr2:30882873..30885685,2	K562	blood:

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

rs_ID	r²[population]
rs1036941	0.98[AFR][1000 genomes]
rs1252619	0.98[AFR][1000 genomes]
rs1662943	0.98[AFR][1000 genomes]
rs1662945	0.98[AFR][1000 genomes]
rs2593431	0.81[ASN][1000 genomes]
rs57484347	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57637161	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs711236	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs711241	0.92[AFR][1000 genomes]
rs829566	0.95[AFR][1000 genomes]
rs829567	0.98[AFR][1000 genomes]
rs829568	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs829640	0.95[AFR][1000 genomes]
rs829643	0.95[AFR][1000 genomes]
rs829652	0.93[AFR][1000 genomes]
rs829674	0.93[AFR][1000 genomes]
rs829676	0.93[AFR][1000 genomes]
rs829678	0.93[AFR][1000 genomes]
rs829683	0.93[AFR][1000 genomes]
rs829685	0.90[AFR][1000 genomes]
rs829688	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829691	0.90[AFR][1000 genomes]
rs829692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs829697	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30646400-30662600	Weak transcription	Thymus	Thymus
2	chr2:30647800-30659800	Weak transcription	Left Ventricle	heart
3	chr2:30648600-30659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:30652000-30660800	Weak transcription	K562	blood
5	chr2:30656200-30657800	Enhancers	Stomach Smooth Muscle	stomach
6	chr2:30656200-30658000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:30656400-30657800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:30656400-30658400	Enhancers	Ovary	ovary
9	chr2:30656600-30657600	Bivalent Enhancer	HepG2	liver
10	chr2:30656800-30660000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:30656800-30660400	Weak transcription	Aorta	Aorta
12	chr2:30657000-30659400	Weak transcription	NHDF-Ad	bronchial
13	chr2:30657200-30658200	Enhancers	Fetal Heart	heart
14	chr2:30657400-30658200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:30657400-30659600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:30657400-30659800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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