Variant report

Variant	rs72966310
Chromosome Location	chr6:54904554-54904555
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10440849	0.82[EUR][1000 genomes]
rs5011191	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56003919	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59419160	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60139657	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6901139	0.81[EUR][1000 genomes]
rs72957255	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72966320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72970757	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72978508	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7741358	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7752291	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7761418	0.80[EUR][1000 genomes]
rs7767652	0.81[EUR][1000 genomes]
rs9464190	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9475166	0.81[EUR][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	esv3364886	chr6:54880042-54912395	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
2	esv3368520	chr6:54881042-54905736	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
3	nsv1033756	chr6:54881828-54944304	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538225	chr6:54881828-54944304	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 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	chr6:54900800-54905000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:54904200-54904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:54904200-54905600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:54904200-54906200	Enhancers	Osteobl	bone
5	chr6:54904400-54905400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr6:54904400-54905800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:54904400-54906000	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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