Variant report

Variant	rs17432815
Chromosome Location	chr5:167170472-167170473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1023629	0.86[EUR][1000 genomes]
rs11134469	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12187148	0.81[ASW][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap]
rs12188727	0.89[ASW][hapmap];0.82[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1421991	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs17069217	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17511302	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17512123	0.82[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.86[EUR][1000 genomes]
rs2878866	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs55824929	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56000978	0.94[EUR][1000 genomes]
rs57873364	0.82[EUR][1000 genomes]
rs58440562	0.94[EUR][1000 genomes]
rs58847998	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59682785	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6869161	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6874034	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs6880473	0.80[EUR][1000 genomes]
rs73801365	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73801390	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73801394	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73801395	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73801401	0.80[EUR][1000 genomes]
rs73803208	0.80[EUR][1000 genomes]
rs73803212	0.80[EUR][1000 genomes]
rs73803215	0.84[EUR][1000 genomes]
rs7711527	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7715344	1.00[CEU][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7719191	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7721878	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725172	0.82[CEU][hapmap]
rs7725488	0.82[CEU][hapmap]
rs7736577	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7737377	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs918794	0.82[EUR][1000 genomes]
rs918795	0.82[EUR][1000 genomes]
rs9313389	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167158000-167170600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:167158800-167170800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:167159200-167171000	Weak transcription	HSMM	muscle
4	chr5:167165200-167170800	Weak transcription	Fetal Lung	lung
5	chr5:167167000-167170600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:167167000-167170600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:167167000-167171200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:167169800-167171600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:167170000-167170600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:167170000-167170800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:167170000-167171000	Enhancers	NHEK	skin
12	chr5:167170000-167171200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:167170000-167171400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:167170000-167171600	Enhancers	Hela-S3	cervix
15	chr5:167170000-167171600	Enhancers	NH-A	brain
16	chr5:167170000-167172200	Enhancers	HMEC	breast
17	chr5:167170000-167172400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:167170200-167170600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:167170200-167171000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:167170200-167171600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:167170200-167171600	Enhancers	HSMMtube	muscle
22	chr5:167170200-167171600	Enhancers	Osteobl	bone
23	chr5:167170200-167171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:167170200-167171800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:167170400-167171000	Weak transcription	Adipose Nuclei	Adipose
26	chr5:167170400-167171000	Weak transcription	Pancreas	Pancrea
27	chr5:167170400-167177200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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