Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:68597367..68600237-chr6:68683267..68687588,4	K562	blood:
2	chr6:68687044..68689950-chr6:68690384..68694456,5	K562	blood:

Variant related genes	Relation type
ENSG00000227706	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11758129	0.82[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs11962528	0.80[ASW][hapmap]
rs12055485	0.81[ASN][1000 genomes]
rs12055723	0.81[ASN][1000 genomes]
rs1514363	0.82[CHB][hapmap]
rs2102680	1.00[CHB][hapmap]
rs2137885	0.84[CHB][hapmap]
rs72892576	0.82[ASN][1000 genomes]
rs72892584	0.84[ASN][1000 genomes]
rs72894304	0.84[ASN][1000 genomes]
rs9342675	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs9342676	0.86[ASN][1000 genomes]
rs9346093	0.81[ASN][1000 genomes]
rs9346099	0.81[ASN][1000 genomes]
rs9346100	0.82[ASN][1000 genomes]
rs9346110	0.88[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs9351685	0.81[ASN][1000 genomes]
rs9354646	0.81[ASN][1000 genomes]
rs9354652	0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9360311	0.91[CHB][hapmap];0.93[CHD][hapmap];0.84[ASN][1000 genomes]
rs9363819	0.81[ASN][1000 genomes]
rs9363820	0.81[ASN][1000 genomes]
rs9363821	0.81[ASN][1000 genomes]
rs9363824	0.83[CHB][hapmap]
rs9363825	0.82[ASN][1000 genomes]
rs9363826	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs9363828	0.84[ASN][1000 genomes]
rs9363830	0.84[ASN][1000 genomes]
rs9363831	0.86[ASN][1000 genomes]
rs9363834	0.85[ASN][1000 genomes]
rs9363839	0.90[JPT][hapmap]
rs9363840	0.86[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.90[MKK][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][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	nsv1027923	chr6:67830533-68828337	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1016471	chr6:67854363-68708368	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv538292	chr6:67854363-68708368	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv603589	chr6:67975166-68865718	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3415097	chr6:68536406-69244164	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1877779	SMAP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68686600-68723800	Weak transcription	K562	blood

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