Variant report

Variant	rs10454960
Chromosome Location	chr5:167240944-167240945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10045595	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10454966	0.82[ASW][hapmap];0.83[MKK][hapmap];0.92[YRI][hapmap]
rs10516038	0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs11134472	0.92[EUR][1000 genomes]
rs11738000	0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs11750131	0.94[TSI][hapmap]
rs12651802	0.81[EUR][1000 genomes]
rs13166995	0.92[EUR][1000 genomes]
rs1364368	0.94[ASW][hapmap];0.84[CEU][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.90[EUR][1000 genomes]
rs2018599	0.80[EUR][1000 genomes]
rs2337000	0.82[CEU][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs2911499	0.84[CEU][hapmap];0.84[LWK][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs2973664	0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs2973667	0.91[EUR][1000 genomes]
rs4270713	0.92[EUR][1000 genomes]
rs4479863	0.83[CEU][hapmap];0.80[MEX][hapmap];0.90[TSI][hapmap]
rs6555770	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs6861976	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6862936	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs6863601	0.94[ASW][hapmap];0.84[CEU][hapmap];0.94[LWK][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6891311	0.83[CEU][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap]
rs6898256	0.89[EUR][1000 genomes]
rs7707689	0.86[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap]
rs7714651	0.87[CHB][hapmap];0.91[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167230000-167242000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:167230600-167242000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:167230600-167242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:167232800-167241200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:167237400-167242000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:167237800-167241800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:167238400-167246600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:167239200-167241000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:167239200-167241400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:167239200-167243600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:167239400-167241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:167239400-167242800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:167239600-167241000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:167239600-167242600	Enhancers	NHEK	skin
15	chr5:167239600-167243400	Enhancers	HMEC	breast
16	chr5:167239600-167244200	Enhancers	HSMM	muscle
17	chr5:167239800-167241200	Enhancers	A549	lung
18	chr5:167239800-167241400	Enhancers	Stomach Mucosa	stomach
19	chr5:167239800-167241600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:167240000-167241400	Enhancers	Osteobl	bone
21	chr5:167240000-167250600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:167240400-167242200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:167240600-167241800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:167240600-167241800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:167240600-167246000	Weak transcription	Fetal Thymus	thymus
26	chr5:167240800-167241000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:167240800-167241000	Bivalent Enhancer	NH-A	brain
28	chr5:167240800-167241800	Weak transcription	Pancreas	Pancrea

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