Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142308972..142312076-chr2:142313360..142316898,3	K562	blood:
2	chr2:142303735..142305902-chr2:142307985..142310549,2	K562	blood:

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10496884	0.84[EUR][1000 genomes]
rs11675776	1.00[EUR][1000 genomes]
rs12992656	0.88[EUR][1000 genomes]
rs12992971	0.93[EUR][1000 genomes]
rs12993733	0.84[EUR][1000 genomes]
rs12993821	0.93[EUR][1000 genomes]
rs13001306	0.84[EUR][1000 genomes]
rs13006974	1.00[EUR][1000 genomes]
rs13030953	1.00[EUR][1000 genomes]
rs1471675	0.91[EUR][1000 genomes]
rs17616060	0.84[EUR][1000 genomes]
rs17734546	0.97[EUR][1000 genomes]
rs17735355	0.91[EUR][1000 genomes]
rs17735650	0.91[EUR][1000 genomes]
rs17735674	0.91[EUR][1000 genomes]
rs17791774	0.91[EUR][1000 genomes]
rs17792070	0.91[EUR][1000 genomes]
rs1842932	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2890614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35007711	1.00[EUR][1000 genomes]
rs35148968	0.91[EUR][1000 genomes]
rs35155989	0.91[EUR][1000 genomes]
rs36057199	0.84[EUR][1000 genomes]
rs66461219	0.91[EUR][1000 genomes]
rs6717454	0.83[EUR][1000 genomes]
rs6740704	0.91[EUR][1000 genomes]
rs6748629	0.83[EUR][1000 genomes]
rs68002957	0.93[EUR][1000 genomes]
rs72855404	0.93[EUR][1000 genomes]
rs7576298	0.94[EUR][1000 genomes]
rs7579093	1.00[EUR][1000 genomes]
rs7579392	1.00[EUR][1000 genomes]
rs7585876	0.84[EUR][1000 genomes]
rs7592963	1.00[EUR][1000 genomes]
rs7592987	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	nsv459640	chr2:142291211-142345574	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv583213	chr2:142291211-142345574	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv583214	chr2:142299923-142458316	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv3412600	chr2:142306382-142310180	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142306200-142312200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:142306400-142312200	Weak transcription	Brain Substantia Nigra	brain

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