Variant report

Variant	rs6809223
Chromosome Location	chr3:46058335-46058336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46055448..46059046-chr3:46061975..46067707,8	K562	blood:
2	chr3:46056098..46058529-chr3:46065218..46067707,2	K562	blood:

Variant related genes	Relation type
ENSG00000226933	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1388605	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs1392288	0.85[CEU][hapmap]
rs1392293	0.88[EUR][1000 genomes]
rs1546076	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1809733	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs2036293	0.92[EUR][1000 genomes]
rs2133666	0.89[EUR][1000 genomes]
rs2371	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2373148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373155	0.86[CEU][hapmap]
rs2888511	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321566	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4490404	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4493468	0.89[EUR][1000 genomes]
rs4682801	0.95[CEU][hapmap]
rs4683158	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs4683171	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6441938	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6441939	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786959	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6802312	0.95[CEU][hapmap]
rs7610953	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7622333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7625348	0.95[EUR][1000 genomes]
rs7638309	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653682	0.95[CEU][hapmap]
rs904634	0.81[EUR][1000 genomes]
rs974380	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs974381	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9811555	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820016	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9869458	0.95[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46037600-46064600	Weak transcription	Gastric	stomach
2	chr3:46055200-46060800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:46055400-46060800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:46056600-46059000	Enhancers	Monocytes-CD14+_RO01746	blood

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