Variant report

Variant	rs73949503
Chromosome Location	chr2:86663981-86663982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86661810..86665004-chr2:86667486..86670634,4	K562	blood:
2	chr2:86661810..86664020-chr2:86667060..86669461,3	K562	blood:

Variant related genes	Relation type
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10181540	0.86[EUR][1000 genomes]
rs1105862	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1105863	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1105864	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2276624	1.00[EUR][1000 genomes]
rs3731811	1.00[EUR][1000 genomes]
rs3821013	1.00[EUR][1000 genomes]
rs41318646	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58449699	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58740162	0.84[ASN][1000 genomes]
rs58914241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59064682	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59714766	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61748134	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6547681	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6547683	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6547684	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6707865	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6709505	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6730867	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6731264	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6731801	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6736342	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6744590	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6748880	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6756078	0.90[EUR][1000 genomes]
rs72928446	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73945294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73949512	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568093	0.90[EUR][1000 genomes]
rs7574555	0.90[EUR][1000 genomes]
rs870372	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870373	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870374	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870375	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs949922	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86654000-86664400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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