Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173730786..173733369-chr2:173736529..173738665,2	K562	blood:
2	chr2:173736851..173738482-chr2:173743498..173745372,2	K562	blood:

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

rs_ID	r²[population]
rs3754760	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754761	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754762	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754764	0.82[ASN][1000 genomes]
rs3769265	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769268	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769274	0.85[ASN][1000 genomes]
rs3769277	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769278	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769280	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769281	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769286	0.82[ASN][1000 genomes]
rs3769291	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3769294	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55759167	1.00[EUR][1000 genomes]
rs55923901	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56884890	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57440334	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59080171	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73977722	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73977726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73977727	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73977729	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3342599	chr2:173736406-173742004	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173726800-173753600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:173729200-173737000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:173734400-173747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:173736200-173742400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:173736200-173742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:173736200-173742400	Weak transcription	NHEK	skin

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