Variant report

Variant	rs193475
Chromosome Location	chr22:30450492-30450493
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	chr22:30436980..30439032-chr22:30450263..30452831,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1468176	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1548389	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1807711	0.80[AMR][1000 genomes]
rs193471	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs193474	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193476	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989870	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007446	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2285667	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2412972	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2412976	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41156	0.80[EUR][1000 genomes]
rs41157	0.80[EUR][1000 genomes]
rs41161	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41168	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs41170	0.87[EUR][1000 genomes]
rs41171	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs41173	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41176	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4336042	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4820827	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4823076	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753008	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753025	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753037	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763670	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5763751	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5763775	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763779	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5763790	0.84[AMR][1000 genomes]
rs5763842	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59663694	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7287570	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73162764	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73164755	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs193475	NIPSNAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30435000-30450600	Weak transcription	Gastric	stomach
2	chr22:30441400-30450600	Weak transcription	Adipose Nuclei	Adipose
3	chr22:30449400-30452400	Enhancers	HepG2	liver
4	chr22:30450000-30451200	Enhancers	Fetal Heart	heart
5	chr22:30450200-30451200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:30450200-30451400	Enhancers	Fetal Intestine Small	intestine
7	chr22:30450400-30451000	Enhancers	Fetal Kidney	kidney
8	chr22:30450400-30451000	Enhancers	Pancreas	Pancrea
9	chr22:30450400-30451400	Enhancers	Stomach Mucosa	stomach

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