Variant report

Variant	rs17500892
Chromosome Location	chr4:95796952-95796953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95795009..95797987-chr4:95807985..95810628,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10488912	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11097447	0.85[CEU][hapmap];0.85[GIH][hapmap]
rs11939949	0.85[CEU][hapmap];0.85[GIH][hapmap]
rs11944292	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12508959	0.82[EUR][1000 genomes]
rs12510047	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12511896	1.00[CEU][hapmap];0.95[GIH][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs12511962	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12512031	0.82[EUR][1000 genomes]
rs12512679	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12512684	0.82[EUR][1000 genomes]
rs12512864	0.82[EUR][1000 genomes]
rs1348606	0.85[CEU][hapmap]
rs17401285	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17428494	1.00[CEU][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs17428501	1.00[CEU][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs17428550	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17428564	1.00[CEU][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs17428585	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs17428830	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17429175	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17500351	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17500448	0.82[EUR][1000 genomes]
rs17500926	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17501107	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2023836	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28604506	0.82[EUR][1000 genomes]
rs2865409	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2865411	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4446318	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4623010	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58645352	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6835267	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7698964	0.85[CEU][hapmap]
rs7699554	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs916875	1.00[CEU][hapmap];0.84[EUR][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	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer 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 miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17500892	TSPAN5	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95781200-95810600	Weak transcription	Fetal Kidney	kidney
2	chr4:95793400-95801600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:95793400-95802200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:95793400-95810600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:95794000-95798400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:95795200-95797200	Weak transcription	A549	lung

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