Variant report

Variant	rs26563
Chromosome Location	chr5:111341445-111341446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10059738	0.85[ASN][1000 genomes]
rs10063079	0.84[ASN][1000 genomes]
rs10463623	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10463624	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11241146	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1493453	0.91[ASN][1000 genomes]
rs1494585	0.90[ASN][1000 genomes]
rs1507844	0.87[CEU][hapmap]
rs1540687	0.86[CEU][hapmap]
rs168875	0.82[ASN][1000 genomes]
rs2047070	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[ASN][1000 genomes]
rs2048155	0.85[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs255910	0.88[ASN][1000 genomes]
rs255916	0.82[ASN][1000 genomes]
rs255920	0.81[ASN][1000 genomes]
rs255928	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs255929	0.96[ASN][1000 genomes]
rs255930	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs25790	0.87[CEU][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs26539	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs26540	0.96[ASN][1000 genomes]
rs26541	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs26542	0.97[ASN][1000 genomes]
rs26543	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[ASN][1000 genomes]
rs26545	0.90[ASN][1000 genomes]
rs26546	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs26557	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs26558	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs26559	0.98[ASN][1000 genomes]
rs26560	0.99[ASN][1000 genomes]
rs26561	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26562	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27535	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34924	0.86[ASW][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34928	0.90[ASN][1000 genomes]
rs34930	0.90[ASN][1000 genomes]
rs34931	0.90[ASN][1000 genomes]
rs34941	0.95[ASN][1000 genomes]
rs34942	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35303575	0.91[ASN][1000 genomes]
rs35658682	0.90[ASN][1000 genomes]
rs36061964	0.86[ASN][1000 genomes]
rs36069145	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36133922	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41142	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42308	0.90[ASN][1000 genomes]
rs466033	0.95[CEU][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs474807	0.84[ASN][1000 genomes]
rs490821	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs490983	0.87[ASN][1000 genomes]
rs504582	0.85[ASN][1000 genomes]
rs508089	0.87[ASN][1000 genomes]
rs560063	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs593236	0.86[ASN][1000 genomes]
rs624694	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs6881837	0.86[ASN][1000 genomes]
rs6882073	0.84[ASN][1000 genomes]
rs6882205	0.86[ASN][1000 genomes]
rs712660	0.87[ASN][1000 genomes]
rs7710690	0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7730997	0.88[ASN][1000 genomes]
rs7735316	0.87[ASN][1000 genomes]
rs9326846	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs980888	0.91[ASN][1000 genomes]

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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2829846	chr5:111341445-111435769	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111337200-111342600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:111338000-111343000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:111339600-111343600	Enhancers	Osteobl	bone
4	chr5:111339800-111341600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:111339800-111343200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:111339800-111343200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:111340000-111341600	Enhancers	HMEC	breast
8	chr5:111340000-111341600	Enhancers	HSMM	muscle
9	chr5:111340000-111342800	Enhancers	NHLF	lung
10	chr5:111340000-111343000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:111340200-111341600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:111340200-111341600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:111340200-111341600	Enhancers	NHEK	skin
14	chr5:111340200-111343200	Enhancers	NH-A	brain
15	chr5:111340800-111341600	Enhancers	Adipose Nuclei	Adipose
16	chr5:111340800-111341600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:111341000-111343000	Enhancers	NHDF-Ad	bronchial
18	chr5:111341200-111342400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:111341400-111342400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:111341400-111342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:111341400-111342600	Weak transcription	HSMMtube	muscle
22	chr5:111341400-111342800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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