Variant report

Variant	rs7591357
Chromosome Location	chr2:49060049-49060050
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10495961	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12991843	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13009992	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13014387	0.91[EUR][1000 genomes]
rs13014494	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13015025	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13025362	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13026157	0.90[ASN][1000 genomes]
rs17483876	1.00[ASN][1000 genomes]
rs17556035	1.00[ASN][1000 genomes]
rs34339121	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34375934	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34428472	1.00[ASN][1000 genomes]
rs35069037	0.83[EUR][1000 genomes]
rs4374422	0.90[ASN][1000 genomes]
rs4432506	0.90[ASN][1000 genomes]
rs4525742	0.95[ASN][1000 genomes]
rs4533511	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4558635	0.95[ASN][1000 genomes]
rs55663001	0.90[ASN][1000 genomes]
rs55712456	1.00[ASN][1000 genomes]
rs55930451	0.90[ASN][1000 genomes]
rs55971673	0.90[ASN][1000 genomes]
rs56963017	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57463767	1.00[ASN][1000 genomes]
rs58176203	1.00[ASN][1000 genomes]
rs58718281	0.90[ASN][1000 genomes]
rs59230684	1.00[ASN][1000 genomes]
rs59263252	1.00[ASN][1000 genomes]
rs60324887	0.85[ASN][1000 genomes]
rs60732263	1.00[ASN][1000 genomes]
rs61020573	1.00[ASN][1000 genomes]
rs6706022	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67138907	0.90[ASN][1000 genomes]
rs6721247	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6734547	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72811832	0.85[ASN][1000 genomes]
rs72811860	0.90[ASN][1000 genomes]
rs72811867	0.90[ASN][1000 genomes]
rs72811870	0.90[ASN][1000 genomes]
rs72811872	0.95[ASN][1000 genomes]
rs72811873	0.95[ASN][1000 genomes]
rs72811885	1.00[ASN][1000 genomes]
rs72811892	1.00[ASN][1000 genomes]
rs72823283	1.00[ASN][1000 genomes]
rs7423715	1.00[ASN][1000 genomes]
rs7567401	1.00[ASN][1000 genomes]
rs7594280	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594367	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597830	1.00[ASN][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	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1011157	chr2:49041121-49061439	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1008459	chr2:49041121-49062097	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7591357	PRKCE	cis	parietal	SCAN
rs7591357	CRIPT	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach

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