Variant report

Variant	rs193471
Chromosome Location	chr22:30447305-30447306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1468176	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1548389	0.83[AMR][1000 genomes]
rs1807711	0.80[AMR][1000 genomes]
rs193474	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs193475	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs193476	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1989870	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2007446	0.83[AMR][1000 genomes]
rs2285667	0.83[AMR][1000 genomes]
rs2412972	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2412976	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41161	0.83[AMR][1000 genomes]
rs41170	0.81[EUR][1000 genomes]
rs41171	0.81[EUR][1000 genomes]
rs41173	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41176	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4336042	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4820827	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4823076	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5753008	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5753025	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753037	0.83[AMR][1000 genomes]
rs5763670	0.83[AMR][1000 genomes]
rs5763751	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763775	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5763779	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5763790	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5763842	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59663694	0.81[AMR][1000 genomes]
rs7287570	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73162764	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3366248	chr22:30443364-30448009	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3455785	chr22:30443411-30447963	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3455787	chr22:30443419-30447983	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3455788	chr22:30443419-30447983	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3398834	chr22:30443518-30448046	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs193471	NIPSNAP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:30430200-30449600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:30435000-30450600	Weak transcription	Gastric	stomach
4	chr22:30438200-30448200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:30441400-30450600	Weak transcription	Adipose Nuclei	Adipose
6	chr22:30443000-30449400	Weak transcription	HepG2	liver
7	chr22:30444800-30450200	Weak transcription	Fetal Intestine Small	intestine
8	chr22:30445200-30450200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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