Variant report

Variant	rs73246529
Chromosome Location	chr8:67023090-67023091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67020409..67023104-chr8:67024737..67027669,3	K562	blood:
2	chr8:67017659..67020444-chr8:67021463..67024144,2	K562	blood:
3	chr8:67018137..67023099-chr8:67024551..67027226,4	MCF-7	breast:
4	chr8:67013473..67015902-chr8:67022725..67024628,2	K562	blood:
5	chr8:67016508..67023104-chr8:67024672..67027865,9	K562	blood:

Variant related genes	Relation type
ENSG00000253190	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10092687	1.00[ASN][1000 genomes]
rs10095931	1.00[ASN][1000 genomes]
rs10101457	1.00[ASN][1000 genomes]
rs10113208	1.00[ASN][1000 genomes]
rs11986805	1.00[ASN][1000 genomes]
rs11987000	0.89[EUR][1000 genomes]
rs11988053	1.00[ASN][1000 genomes]
rs11993015	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334408	1.00[ASN][1000 genomes]
rs16932461	0.92[EUR][1000 genomes]
rs16932465	0.92[EUR][1000 genomes]
rs16932468	0.92[EUR][1000 genomes]
rs16932514	1.00[ASN][1000 genomes]
rs16932544	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357669	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364018	1.00[ASN][1000 genomes]
rs28491110	0.92[EUR][1000 genomes]
rs4366069	1.00[ASN][1000 genomes]
rs4495409	1.00[ASN][1000 genomes]
rs4496952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411320	1.00[EUR][1000 genomes]
rs56981664	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58195552	1.00[EUR][1000 genomes]
rs59142644	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472249	1.00[ASN][1000 genomes]
rs6472251	1.00[ASN][1000 genomes]
rs6988195	1.00[ASN][1000 genomes]
rs7008359	1.00[ASN][1000 genomes]
rs7008578	1.00[ASN][1000 genomes]
rs73246516	1.00[ASN][1000 genomes]
rs73246531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246553	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691276	1.00[EUR][1000 genomes]
rs73691300	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834423	1.00[ASN][1000 genomes]
rs7835948	1.00[ASN][1000 genomes]
rs7845334	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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67018600-67024600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:67019600-67024600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:67020800-67024400	Weak transcription	K562	blood
4	chr8:67023000-67023400	Weak transcription	HSMM	muscle
5	chr8:67023000-67023800	Enhancers	HSMMtube	muscle
6	chr8:67023000-67024800	Enhancers	Fetal Muscle Leg	muscle

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