Variant report

Variant	rs7287570
Chromosome Location	chr22:30507358-30507359
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30505986..30512409-chr22:30645938..30650817,6	MCF-7	breast:
2	chr22:30506495..30508207-chr22:30648737..30651492,2	MCF-7	breast:
3	chr22:30504874..30510163-chr22:30602955..30605471,5	MCF-7	breast:
4	chr22:30506729..30509144-chr22:30602960..30604758,2	MCF-7	breast:
5	chr22:30503068..30507568-chr22:30652252..30654579,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225676	Chromatin interaction

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

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

rs_ID	r²[population]
rs1468176	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1548389	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1807711	0.84[EUR][1000 genomes]
rs193471	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs193474	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs193475	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs193476	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1989870	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2007446	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2285667	0.87[AMR][1000 genomes]
rs2412972	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2412976	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41156	0.81[AFR][1000 genomes]
rs41157	0.81[AFR][1000 genomes]
rs41161	0.87[AMR][1000 genomes]
rs41168	0.92[AFR][1000 genomes]
rs41170	0.84[AFR][1000 genomes]
rs41171	0.92[AFR][1000 genomes]
rs41173	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41176	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4336042	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4820827	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4823076	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753008	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5753025	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753037	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5763614	0.80[AMR][1000 genomes]
rs5763670	0.87[AMR][1000 genomes]
rs5763751	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5763775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5763779	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5763790	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5763842	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59663694	0.85[AMR][1000 genomes]
rs73162764	0.85[AMR][1000 genomes]
rs73164755	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs960987	0.80[AMR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7287570	NIPSNAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30501800-30511800	Weak transcription	Osteobl	bone
2	chr22:30505800-30509600	Weak transcription	A549	lung

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