Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:170041779..170045851-chr1:170055349..170057203,4	K562	blood:
2	chr1:170053359..170054893-chr1:170055223..170057479,2	K562	blood:
3	chr1:170042562..170044134-chr1:170053938..170056849,2	K562	blood:

Variant related genes	Relation type
ENSG00000075945	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10494482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12089836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs1330377	1.00[CHB][hapmap]
rs1541160	1.00[CHB][hapmap];0.91[MKK][hapmap]
rs16863058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2065950	1.00[CHB][hapmap]
rs2474708	1.00[CHB][hapmap]
rs41272487	1.00[ASN][1000 genomes]
rs476269	1.00[CHB][hapmap]
rs522444	1.00[CHB][hapmap]
rs527261	1.00[CHB][hapmap];0.91[MKK][hapmap]
rs541896	1.00[CHB][hapmap]
rs546894	1.00[CHB][hapmap];0.91[MKK][hapmap]
rs571398	1.00[CHB][hapmap]
rs614044	1.00[CHB][hapmap]
rs628436	1.00[CHB][hapmap]
rs6668310	1.00[CHB][hapmap];0.91[MKK][hapmap]
rs6676005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs6677004	1.00[ASN][1000 genomes]
rs6683076	1.00[ASN][1000 genomes]
rs6694304	1.00[CHB][hapmap]
rs73023530	1.00[ASN][1000 genomes]
rs7354853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7354854	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs7355043	1.00[ASN][1000 genomes]
rs7539241	1.00[CHB][hapmap]
rs973015	1.00[CHB][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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs574053	CD247	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170056000-170058200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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