Variant report

Variant	rs160448
Chromosome Location	chr8:90659850-90659851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90658300..90660624-chr8:90699231..90701382,2	MCF-7	breast:
2	chr8:90658491..90660144-chr8:90666581..90669559,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10108588	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1032516	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1040327	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10956191	0.81[ASN][1000 genomes]
rs10956209	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12216864	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13266524	0.81[EUR][1000 genomes]
rs13278061	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1603289	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs160423	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs160424	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs160427	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs160429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs160437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs160441	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160447	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs160449	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs160450	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs160451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs160453	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs183363	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2088198	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2101854	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs216989	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs218882	0.84[EUR][1000 genomes]
rs218884	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs218885	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218886	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs218887	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218888	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs218889	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs218890	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218903	0.85[CHD][hapmap]
rs218915	0.89[EUR][1000 genomes]
rs218917	0.94[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs218918	0.88[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes]
rs2202990	0.80[EUR][1000 genomes]
rs28374917	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2840206	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28819479	0.90[EUR][1000 genomes]
rs34036322	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs419004	0.80[EUR][1000 genomes]
rs4961157	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4961159	0.80[EUR][1000 genomes]
rs56237088	0.80[EUR][1000 genomes]
rs56403153	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6999425	0.82[EUR][1000 genomes]
rs7003919	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7004089	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv870380	chr8:90546585-90720182	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1028026	chr8:90553930-90678631	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv982109	chr8:90556188-90703631	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1026523	chr8:90558935-90722580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv1017263	chr8:90605445-90722580	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs160448	RIPK2	cis	parietal	SCAN
rs160448	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs160448	RP11-37B2.1	cis	Nerve Tibial	GTEx
rs160448	RIPK2	cis	cerebellum	SCAN
rs160448	MMP16	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90655400-90662800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:90656600-90661400	Weak transcription	Lung	lung
3	chr8:90657000-90662200	Weak transcription	Right Ventricle	heart
4	chr8:90658000-90661400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:90659000-90660000	Enhancers	HMEC	breast
6	chr8:90659000-90660400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:90659200-90660000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:90659600-90660000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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