Variant report

Variant	rs7275979
Chromosome Location	chr21:15615500-15615501
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	chr21:15612009..15614501-chr21:15615453..15618275,2	K562	blood:
2	chr21:15611898..15613509-chr21:15614140..15616953,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1475892	1.00[EUR][1000 genomes]
rs17001477	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579323	1.00[EUR][1000 genomes]
rs56365507	0.81[AFR][1000 genomes]
rs58041958	1.00[EUR][1000 genomes]
rs58249276	0.81[AFR][1000 genomes]
rs59461065	0.84[AFR][1000 genomes]
rs59704604	1.00[EUR][1000 genomes]
rs7276511	1.00[ASN][1000 genomes]
rs7277455	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7278119	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7278665	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7279926	1.00[EUR][1000 genomes]
rs7280206	1.00[ASN][1000 genomes]
rs7282081	1.00[EUR][1000 genomes]
rs8130525	1.00[EUR][1000 genomes]
rs9305297	1.00[EUR][1000 genomes]
rs9305311	1.00[EUR][1000 genomes]
rs9974277	1.00[EUR][1000 genomes]
rs9975031	1.00[EUR][1000 genomes]
rs9976092	1.00[EUR][1000 genomes]
rs9976969	1.00[EUR][1000 genomes]
rs9977174	1.00[EUR][1000 genomes]
rs9978061	1.00[EUR][1000 genomes]
rs9978892	1.00[EUR][1000 genomes]
rs9980948	1.00[EUR][1000 genomes]
rs9981182	1.00[EUR][1000 genomes]
rs9981787	1.00[EUR][1000 genomes]
rs9982477	1.00[EUR][1000 genomes]
rs9982684	1.00[EUR][1000 genomes]
rs9982971	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv869466	chr21:15482572-15683385	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1056588	chr21:15583231-15615520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1066738	chr21:15587815-15642948	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv520538	chr21:15615220-15660539	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15614000-15616200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr21:15615400-15617000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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