Variant report

Variant	rs73246516
Chromosome Location	chr8:67013509-67013510
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67009590..67011436-chr8:67013178..67015415,2	MCF-7	breast:
2	chr8:67007328..67009042-chr8:67011505..67014334,2	K562	blood:
3	chr8:67011309..67013901-chr8:67024525..67027468,2	K562	blood:
4	chr8:67013473..67015902-chr8:67022725..67024628,2	K562	blood:

Variant related genes	Relation type
ENSG00000253190	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10092687	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095931	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101457	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113208	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986216	0.89[AFR][1000 genomes]
rs11986805	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988053	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993015	1.00[ASN][1000 genomes]
rs12334408	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932544	1.00[ASN][1000 genomes]
rs2357669	1.00[ASN][1000 genomes]
rs28364018	1.00[ASN][1000 genomes]
rs4366069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495409	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496952	1.00[ASN][1000 genomes]
rs56409403	1.00[ASN][1000 genomes]
rs56981664	1.00[ASN][1000 genomes]
rs59142644	1.00[ASN][1000 genomes]
rs6472249	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472251	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472254	0.81[AFR][1000 genomes]
rs6988195	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998761	0.82[AFR][1000 genomes]
rs7008359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008578	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246529	1.00[ASN][1000 genomes]
rs73246531	1.00[ASN][1000 genomes]
rs73246553	1.00[ASN][1000 genomes]
rs73691300	1.00[ASN][1000 genomes]
rs7818902	0.82[AFR][1000 genomes]
rs7830926	0.87[AFR][1000 genomes]
rs7834423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835948	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838500	0.82[AFR][1000 genomes]
rs7843605	0.82[AFR][1000 genomes]
rs7845334	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67004800-67015600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:67011600-67013800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr8:67011800-67014200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:67012600-67014000	Weak transcription	Psoas Muscle	Psoas
5	chr8:67012800-67014800	Enhancers	Fetal Heart	heart
6	chr8:67013000-67014400	Enhancers	K562	blood
7	chr8:67013000-67016600	Enhancers	Primary monocytes fromperipheralblood	blood

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