Variant report

Variant	rs2146570
Chromosome Location	chr14:31703009-31703010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10132373	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10135213	0.92[EUR][1000 genomes]
rs10138200	0.92[EUR][1000 genomes]
rs10148827	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10151563	0.92[EUR][1000 genomes]
rs1041088	0.96[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs10872849	0.81[EUR][1000 genomes]
rs11156660	0.82[EUR][1000 genomes]
rs11156661	0.82[EUR][1000 genomes]
rs11626839	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12184973	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12434266	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12588620	0.81[EUR][1000 genomes]
rs12889162	0.92[EUR][1000 genomes]
rs12892246	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap]
rs17577629	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17660791	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap]
rs17660955	1.00[CHB][hapmap]
rs2378848	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs3736917	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap]
rs41496248	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.93[MEX][hapmap]
rs4981828	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4981841	1.00[CHB][hapmap]
rs5024655	0.92[EUR][1000 genomes]
rs61995523	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6571402	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6571403	0.92[EUR][1000 genomes]
rs6571404	0.92[EUR][1000 genomes]
rs7146274	0.81[EUR][1000 genomes]
rs7147686	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7156178	0.82[EUR][1000 genomes]
rs7160407	1.00[ASN][1000 genomes]
rs7494025	0.92[EUR][1000 genomes]
rs8022573	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788563	0.92[EUR][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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2146570	C12orf23	trans	cerebellum	SCAN
rs2146570	EGLN3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31699600-31703400	Weak transcription	Placenta	Placenta
2	chr14:31699600-31703800	Enhancers	HepG2	liver
3	chr14:31699600-31707600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:31701800-31708600	Weak transcription	K562	blood
5	chr14:31702400-31703400	Enhancers	A549	lung
6	chr14:31702800-31703400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:31703000-31703400	Weak transcription	Hela-S3	cervix
8	chr14:31703000-31710200	Weak transcription	Fetal Heart	heart

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