Variant report

Variant	rs1032516
Chromosome Location	chr8:90682283-90682284
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90677064..90679784-chr8:90680421..90682775,2	MCF-7	breast:
2	chr8:90671410..90675466-chr8:90680458..90682318,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10108588	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1040327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956209	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216864	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545569	0.83[ASN][1000 genomes]
rs12675281	0.86[ASN][1000 genomes]
rs13266524	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13278061	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1603289	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs160423	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs160424	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs160427	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs160429	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs160437	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs160441	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs160447	0.81[EUR][1000 genomes]
rs160448	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs160449	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs160450	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs160451	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs160453	0.85[AMR][1000 genomes]
rs1605996	0.89[ASN][1000 genomes]
rs1605997	0.89[ASN][1000 genomes]
rs183363	0.82[EUR][1000 genomes]
rs2101854	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs216989	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218882	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs218884	0.84[EUR][1000 genomes]
rs218885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs218886	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218887	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs218888	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218889	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218890	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs218899	0.95[CHB][hapmap];0.97[CHD][hapmap]
rs218900	0.90[CHB][hapmap]
rs218901	0.90[CHB][hapmap]
rs218902	0.90[CHB][hapmap]
rs218903	0.90[CHB][hapmap];0.83[CHD][hapmap]
rs218915	0.81[EUR][1000 genomes]
rs218916	0.81[ASN][1000 genomes]
rs218917	1.00[CEU][hapmap];0.85[GIH][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs218918	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2202990	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28374917	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840206	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28819479	0.82[EUR][1000 genomes]
rs28875294	0.83[EUR][1000 genomes]
rs34036322	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4961154	0.91[ASN][1000 genomes]
rs4961155	0.91[ASN][1000 genomes]
rs4961157	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4961158	0.85[ASN][1000 genomes]
rs56237088	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56291556	0.91[ASN][1000 genomes]
rs56403153	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7003919	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7004089	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][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	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
5	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
6	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
7	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
8	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1032516	RIPK2	cis	parietal	SCAN
rs1032516	RIPK2	cis	cerebellum	SCAN
rs1032516	CNGB3	cis	parietal	SCAN
rs1032516	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90675800-90684800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:90676000-90690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:90676000-90690600	Weak transcription	Pancreas	Pancrea
4	chr8:90677000-90684600	Weak transcription	Aorta	Aorta
5	chr8:90679800-90682400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:90682000-90690600	Weak transcription	Ovary	ovary
7	chr8:90682200-90686200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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