Variant report

No.	Distal block	Cell Line	Cell type
1	chr13:76076405..76080634-chr13:76083700..76088829,4	K562	blood:
2	chr13:76080347..76082551-chr13:76083582..76085785,4	K562	blood:
3	chr13:76084219..76088058-chr13:76110736..76113206,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188243	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1080346	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1080347	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12866456	0.81[JPT][hapmap]
rs1323694	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1323696	0.81[JPT][hapmap]
rs1408042	0.90[ASN][1000 genomes]
rs2031235	0.81[JPT][hapmap]
rs2876705	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4539477	0.81[JPT][hapmap]
rs4884008	0.81[JPT][hapmap]
rs4885319	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs4885321	0.81[JPT][hapmap]
rs6562903	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7139862	0.81[JPT][hapmap]
rs7319227	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7319334	1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs7995040	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[ASN][1000 genomes]
rs8192741	0.81[JPT][hapmap]
rs8192746	0.81[JPT][hapmap]
rs9543951	0.97[ASN][1000 genomes]
rs9543966	0.81[ASN][1000 genomes]
rs9543969	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[ASN][1000 genomes]
rs9543970	0.82[ASN][1000 genomes]
rs9543971	0.80[ASN][1000 genomes]
rs9573580	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[ASN][1000 genomes]
rs966058	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1535728	COMMD6	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76082200-76086000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr13:76082600-76085800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr13:76082600-76095400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:76083200-76085800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr13:76084600-76086200	Enhancers	GM12878-XiMat	blood

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