Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55030989..55033813-chr2:55035805..55037701,2	K562	blood:
2	chr2:55030699..55032489-chr2:55035995..55037701,2	K562	blood:

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

rs_ID	r²[population]
rs11885773	0.95[ASN][1000 genomes]
rs13029124	0.89[ASN][1000 genomes]
rs165054	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2163597	0.93[ASN][1000 genomes]
rs2567840	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2567843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2567844	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2567845	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2567970	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2567971	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2567973	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2567974	0.95[EUR][1000 genomes]
rs2578713	1.00[ASN][1000 genomes]
rs2578714	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2631837	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2631840	0.88[ASN][1000 genomes]
rs2631841	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2631845	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2915636	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354945	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs354946	0.86[ASN][1000 genomes]
rs354947	0.87[ASN][1000 genomes]
rs354948	0.88[ASN][1000 genomes]
rs354949	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1844727	chr2:54999712-55084583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv870295	chr2:55008613-55065985	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv874152	chr2:55023600-55060479	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55035200-55038000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:55035400-55037800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:55035400-55038000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:55036600-55037600	Enhancers	HMEC	breast
5	chr2:55036600-55037800	Enhancers	NHEK	skin
6	chr2:55036600-55038200	Enhancers	HSMMtube	muscle
7	chr2:55036600-55047200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:55037000-55037400	Enhancers	A549	lung
9	chr2:55037000-55037600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:55037200-55037400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:55037200-55037600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:55037200-55040600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:55037200-55041600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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