Variant report

Variant	rs2947021
Chromosome Location	chr15:56555621-56555622
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56535639..56539237-chr15:56554453..56558702,5	K562	blood:

Variant related genes	Relation type
ENSG00000151575	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11630363	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11855094	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs12900678	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs12905782	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12905899	0.92[CEU][hapmap]
rs12911094	0.85[CEU][hapmap]
rs12911427	0.92[CEU][hapmap]
rs1372753	0.85[CEU][hapmap]
rs1402177	0.82[AMR][1000 genomes]
rs1477590	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1549452	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16976890	0.95[CHB][hapmap]
rs17819438	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2119937	0.84[CEU][hapmap]
rs2249090	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303441	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2460650	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2465973	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2554287	0.95[CHB][hapmap]
rs2682012	0.89[ASN][1000 genomes]
rs2682019	0.82[AMR][1000 genomes]
rs2682049	0.81[AMR][1000 genomes]
rs2682051	0.92[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2682053	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2682054	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs2682059	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs2713924	0.92[CEU][hapmap]
rs2713931	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2713933	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2713936	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2713941	0.92[CEU][hapmap]
rs2718921	0.95[CHB][hapmap]
rs2718934	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs2718941	0.92[CEU][hapmap]
rs2725854	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2725856	0.86[CHB][hapmap]
rs2725862	0.81[ASN][1000 genomes]
rs2947020	0.87[ASN][1000 genomes]
rs3784552	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3817406	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4310791	0.92[CEU][hapmap]
rs4310792	0.96[CEU][hapmap]
rs4774232	0.92[CEU][hapmap]
rs6493856	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6493858	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7170307	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7181235	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs7496025	0.92[CEU][hapmap]
rs795786	0.82[CHB][hapmap]
rs795791	0.91[CHB][hapmap]
rs795800	0.95[CHB][hapmap]
rs8024031	0.85[CEU][hapmap]
rs9672886	0.88[CEU][hapmap]

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	nsv833019	chr15:56486029-56649933	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv569547	chr15:56504598-56572176	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2947021	FLJ12994	cis	multi-tissue	Pritchard
rs2947021	RFX7	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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