Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:90534215..90536500-chr5:90559595..90561916,2	K562	blood:
2	chr5:90558168..90560783-chr5:90677559..90679683,3	MCF-7	breast:
3	chr5:90555805..90566288-chr5:90673548..90682139,22	K562	blood:
4	chr5:90557255..90560659-chr5:90676944..90680973,5	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10474341	0.91[ASN][1000 genomes]
rs12188638	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12514996	0.82[ASN][1000 genomes]
rs12515116	0.85[ASN][1000 genomes]
rs12520306	0.91[ASN][1000 genomes]
rs12653995	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12658748	0.86[ASN][1000 genomes]
rs16869618	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2175437	0.84[EUR][1000 genomes]
rs56316727	1.00[ASN][1000 genomes]
rs56377435	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56876862	0.84[ASN][1000 genomes]
rs58781250	0.90[ASN][1000 genomes]
rs72786311	0.91[ASN][1000 genomes]
rs72786312	0.85[ASN][1000 genomes]
rs72786318	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72786321	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786324	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786325	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786326	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786329	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72786331	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786338	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786350	0.95[ASN][1000 genomes]
rs72786353	0.90[ASN][1000 genomes]
rs72786354	0.90[ASN][1000 genomes]
rs9647558	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90559600-90560200	Enhancers	Stomach Smooth Muscle	stomach
2	chr5:90559600-90561000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:90559800-90560000	Enhancers	Psoas Muscle	Psoas
4	chr5:90559800-90560000	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:90559800-90560000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr5:90559800-90560000	Enhancers	K562	blood
7	chr5:90559800-90560600	Enhancers	Gastric	stomach
8	chr5:90559800-90560800	Enhancers	Skeletal Muscle Female	skeletal muscle

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