Variant report

Variant	rs11951463
Chromosome Location	chr5:95383587-95383588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:95383437-95383734	K562	blood:	n/a	n/a
2	MYC	chr5:95383469-95383666	K562	blood:	n/a	n/a
3	CEBPB	chr5:95383405-95383673	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000250551	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10056771	0.81[CEU][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap]
rs10079268	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10085034	0.81[CEU][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap]
rs1021505	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13155375	0.81[CEU][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap]
rs13172783	0.81[CEU][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap]
rs13186419	0.80[EUR][1000 genomes]
rs1389827	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1870270	0.92[EUR][1000 genomes]
rs2067498	0.87[ASN][1000 genomes]
rs4128178	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4270717	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4416625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4479864	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4869256	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs4869258	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4998057	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6556899	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66683317	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6866723	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6871713	0.82[EUR][1000 genomes]
rs6879658	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6879847	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6884999	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6895121	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6895146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7341111	0.90[JPT][hapmap]
rs7700425	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7702346	0.89[ASN][1000 genomes]
rs7702646	0.87[ASN][1000 genomes]
rs7710337	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7717351	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7734224	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs7734985	0.85[CEU][hapmap];0.95[JPT][hapmap]
rs9314163	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9314164	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv522097	chr5:95347786-95425199	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv522465	chr5:95347786-95425199	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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 miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95373600-95384600	Weak transcription	Pancreas	Pancrea
2	chr5:95373600-95385200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:95379600-95384400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:95379600-95384600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:95379800-95385200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:95382200-95385800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:95383400-95383600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:95383400-95383600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:95383400-95383800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:95383400-95384400	Enhancers	K562	blood
11	chr5:95383400-95386000	Enhancers	Fetal Intestine Large	intestine
12	chr5:95383400-95386000	Enhancers	HepG2	liver
13	chr5:95383400-95387400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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