Variant report

Variant	rs26540
Chromosome Location	chr5:111349320-111349321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10059738	0.85[ASN][1000 genomes]
rs10063079	0.84[ASN][1000 genomes]
rs10463623	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10463624	0.95[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11241146	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1493453	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1494585	0.90[ASN][1000 genomes]
rs154047	0.83[ASN][1000 genomes]
rs168875	0.82[ASN][1000 genomes]
rs2047070	0.81[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2048155	0.90[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs255910	0.91[ASN][1000 genomes]
rs255916	0.82[ASN][1000 genomes]
rs255920	0.81[ASN][1000 genomes]
rs255928	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs255929	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs255930	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs25790	0.83[MEX][hapmap]
rs25798	0.81[ASN][1000 genomes]
rs26539	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26541	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26543	0.87[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs26545	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26546	0.89[ASN][1000 genomes]
rs26557	0.92[ASN][1000 genomes]
rs26558	0.92[ASN][1000 genomes]
rs26559	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs26560	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26561	0.96[ASN][1000 genomes]
rs26562	0.96[ASN][1000 genomes]
rs26563	0.96[ASN][1000 genomes]
rs27535	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34924	0.84[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34928	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34930	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34931	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34941	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34942	0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35303575	0.88[ASN][1000 genomes]
rs35658682	0.87[ASN][1000 genomes]
rs36061964	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36069145	0.86[ASN][1000 genomes]
rs36133922	0.86[ASN][1000 genomes]
rs41142	0.96[ASN][1000 genomes]
rs42308	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs474807	0.84[ASN][1000 genomes]
rs490983	0.87[ASN][1000 genomes]
rs504582	0.85[ASN][1000 genomes]
rs508089	0.87[ASN][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	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs980888	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111343600-111349400	Weak transcription	Osteobl	bone
2	chr5:111347200-111351000	Enhancers	Fetal Lung	lung
3	chr5:111347200-111351200	Enhancers	Colon Smooth Muscle	Colon
4	chr5:111348000-111349400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:111348000-111350000	Weak transcription	Fetal Brain Female	brain
6	chr5:111348200-111350400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:111348200-111350800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:111348400-111349400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:111348400-111350000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:111348400-111350400	Weak transcription	Fetal Brain Male	brain
11	chr5:111348400-111350600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:111348600-111349600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:111348800-111349600	Enhancers	Brain Germinal Matrix	brain
14	chr5:111349000-111349600	Enhancers	Stomach Smooth Muscle	stomach
15	chr5:111349200-111349400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:111349200-111349600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:111349200-111349600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:111349200-111349600	Enhancers	Adipose Nuclei	Adipose
19	chr5:111349200-111349600	Enhancers	Pancreas	Pancrea
20	chr5:111349200-111349600	Enhancers	Right Atrium	heart
21	chr5:111349200-111349600	Enhancers	Right Ventricle	heart
22	chr5:111349200-111349600	Enhancers	HepG2	liver
23	chr5:111349200-111349600	Enhancers	NH-A	brain
24	chr5:111349200-111349800	Enhancers	Stomach Mucosa	stomach
25	chr5:111349200-111350000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:111349200-111350000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:111349200-111351200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:111349200-111351200	Enhancers	NHDF-Ad	bronchial

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