Variant report

Variant	rs11791931
Chromosome Location	chr9:94954007-94954008
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	chr9:94953066..94955822-chr9:95048341..95050662,2	K562	blood:

Variant related genes	Relation type
ENSG00000196305	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1058726	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1058751	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1144933	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1152760	0.82[ASN][1000 genomes]
rs1152761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1152762	0.82[ASN][1000 genomes]
rs1175737	0.82[ASN][1000 genomes]
rs1175923	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1175930	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1175931	0.81[CEU][hapmap]
rs11787696	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11789578	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11790257	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11792542	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11793505	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11794966	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555097	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084289	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2295939	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs3894058	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280213	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs41280215	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs472163	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4743862	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743863	0.81[ASN][1000 genomes]
rs4743864	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743866	0.81[CEU][hapmap]
rs4743867	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4743868	0.93[CEU][hapmap];0.89[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4743871	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4744123	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744124	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4744125	0.93[CEU][hapmap];0.88[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs501814	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs556155	0.81[CEU][hapmap]
rs557066	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55894730	0.81[AMR][1000 genomes]
rs56110031	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56308715	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56374228	0.81[AMR][1000 genomes]
rs895639	0.93[CEU][hapmap];0.89[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9409464	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9409465	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9409466	0.81[CEU][hapmap]
rs9409467	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9409469	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs9409659	0.85[ASN][1000 genomes]
rs9409660	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9409661	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9409662	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9409665	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs9409666	0.86[ASN][1000 genomes]
rs944949	0.87[CEU][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94944800-94955800	Weak transcription	Right Atrium	heart
2	chr9:94950600-94954400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:94952800-94959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:94953000-94954200	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:94953000-94959000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:94953400-94954600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:94953800-94954200	Enhancers	Fetal Stomach	stomach
8	chr9:94953800-94954600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:94954000-94954200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:94954000-94954400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:94954000-94954400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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