Variant report

Variant	rs56221999
Chromosome Location	chr6:27713945-27713946
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27705791..27707842-chr6:27711805..27713945,2	K562	blood:
2	chr6:27705667..27707842-chr6:27712445..27714463,2	K562	blood:
3	chr6:27713706..27716261-chr6:27717105..27720222,3	K562	blood:
4	chr6:27713445..27716447-chr6:27717145..27720805,5	K562	blood:

Variant related genes	Relation type
ENSG00000216915	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12111051	1.00[EUR][1000 genomes]
rs149854	1.00[EUR][1000 genomes]
rs149879	1.00[EUR][1000 genomes]
rs16867858	1.00[EUR][1000 genomes]
rs16867899	1.00[EUR][1000 genomes]
rs16867901	1.00[EUR][1000 genomes]
rs169263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs187995	1.00[AMR][1000 genomes]
rs200959	1.00[AMR][1000 genomes]
rs200962	1.00[EUR][1000 genomes]
rs200970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2200870	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs276366	1.00[EUR][1000 genomes]
rs276367	1.00[EUR][1000 genomes]
rs276368	1.00[EUR][1000 genomes]
rs276372	1.00[EUR][1000 genomes]
rs425159	1.00[EUR][1000 genomes]
rs55768730	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55965630	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55987929	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56262840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56366090	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58359716	1.00[EUR][1000 genomes]
rs58458505	0.83[AMR][1000 genomes]
rs58700542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59021090	1.00[AMR][1000 genomes]
rs59716769	0.85[AMR][1000 genomes]
rs61275289	0.83[AMR][1000 genomes]
rs6456800	1.00[EUR][1000 genomes]
rs6904979	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739117	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739122	1.00[EUR][1000 genomes]
rs73739150	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739606	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739750	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73739773	0.83[AMR][1000 genomes]
rs73740805	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73740842	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73742455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs839777	1.00[EUR][1000 genomes]
rs9295739	1.00[EUR][1000 genomes]
rs9461396	1.00[EUR][1000 genomes]
rs9468189	1.00[EUR][1000 genomes]
rs9468190	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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers 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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27707000-27714600	Weak transcription	GM12878-XiMat	blood

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