Variant report

Variant	rs2222848
Chromosome Location	chr2:76666872-76666873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10496204	0.94[ASN][1000 genomes]
rs10519330	0.93[ASN][1000 genomes]
rs11126536	0.86[ASN][1000 genomes]
rs11126537	0.86[ASN][1000 genomes]
rs11126538	0.86[ASN][1000 genomes]
rs11679162	0.86[ASN][1000 genomes]
rs12474459	0.86[ASN][1000 genomes]
rs12623421	0.87[ASN][1000 genomes]
rs13002864	0.84[ASN][1000 genomes]
rs13011427	0.86[ASN][1000 genomes]
rs13012727	0.86[ASN][1000 genomes]
rs13033650	0.86[ASN][1000 genomes]
rs17012831	0.90[ASN][1000 genomes]
rs17491623	0.90[ASN][1000 genomes]
rs17517504	0.86[ASN][1000 genomes]
rs2091716	0.92[ASN][1000 genomes]
rs2178520	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2860769	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2860770	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34475125	0.86[ASN][1000 genomes]
rs35041598	0.86[ASN][1000 genomes]
rs35289637	0.86[ASN][1000 genomes]
rs35822600	0.86[ASN][1000 genomes]
rs36064715	0.86[ASN][1000 genomes]
rs55718418	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55765515	0.86[ASN][1000 genomes]
rs55799622	0.87[ASN][1000 genomes]
rs60507784	0.84[ASN][1000 genomes]
rs62166048	0.94[ASN][1000 genomes]
rs62167487	0.86[ASN][1000 genomes]
rs62167489	0.85[ASN][1000 genomes]
rs6547087	0.92[ASN][1000 genomes]
rs72809040	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72809043	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72809046	0.95[ASN][1000 genomes]
rs72809050	0.94[ASN][1000 genomes]
rs72809069	0.92[ASN][1000 genomes]
rs72810811	0.90[ASN][1000 genomes]
rs72810819	0.86[ASN][1000 genomes]
rs72810824	0.90[ASN][1000 genomes]
rs7422459	0.88[ASN][1000 genomes]
rs7424489	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7585094	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006097	chr2:76524248-76675427	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2757809	chr2:76541920-76705354	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759064	chr2:76541920-76705354	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874317	chr2:76554077-76890567	Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1013614	chr2:76624220-76715121	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582227	chr2:76662404-76712789	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2222848	MRPL19	cis	cerebellum	SCAN
rs2222848	SPRR1B	trans	cerebellum	SCAN
rs2222848	LRRTM4	cis	cerebellum	SCAN
rs2222848	C2orf78	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76659200-76677000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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