Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:100932853..100934904-chr2:100954615..100957367,2	K562	blood:
2	chr2:100952526..100956486-chr2:100958887..100961434,3	K562	blood:
3	chr2:100937318..100939314-chr2:100955169..100957159,2	MCF-7	breast:
4	chr2:100937601..100941206-chr2:100954662..100959386,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

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

rs_ID	r²[population]
rs10165326	0.86[ASN][1000 genomes]
rs10186689	0.85[ASN][1000 genomes]
rs10188009	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10191099	0.85[ASN][1000 genomes]
rs10192741	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10194087	0.85[ASN][1000 genomes]
rs10194280	0.85[ASN][1000 genomes]
rs10207566	0.85[ASN][1000 genomes]
rs10210458	0.85[ASN][1000 genomes]
rs11899975	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11902829	0.89[ASN][1000 genomes]
rs13415850	0.85[ASN][1000 genomes]
rs1465829	0.81[ASN][1000 genomes]
rs17024153	0.85[ASN][1000 genomes]
rs17024207	0.81[ASN][1000 genomes]
rs2309799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28485289	0.85[ASN][1000 genomes]
rs28631885	0.85[ASN][1000 genomes]
rs28651883	0.82[ASN][1000 genomes]
rs2871338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3748934	0.81[ASN][1000 genomes]
rs4149522	0.81[ASN][1000 genomes]
rs57231149	0.93[ASN][1000 genomes]
rs57699256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58552292	0.93[ASN][1000 genomes]
rs58742261	0.93[ASN][1000 genomes]
rs59193721	0.85[ASN][1000 genomes]
rs59388202	0.81[ASN][1000 genomes]
rs59494003	0.82[ASN][1000 genomes]
rs60458261	0.85[ASN][1000 genomes]
rs61429123	0.85[ASN][1000 genomes]
rs6542928	0.85[ASN][1000 genomes]
rs6734881	0.85[ASN][1000 genomes]
rs72960174	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs995133	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100955600-100956800	Enhancers	K562	blood
2	chr2:100955800-100956200	Active TSS	Pancreatic Islets	Pancreatic Islet

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