Variant report

Variant	rs36341
Chromosome Location	chr14:72390689-72390690
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	chr14:72385850..72387613-chr14:72389162..72391430,2	K562	blood:
2	chr14:72379036..72382191-chr14:72388206..72391072,3	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11621415	0.89[ASN][1000 genomes]
rs11623548	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs11623588	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs12433726	0.99[ASN][1000 genomes]
rs12590831	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs17093752	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1860104	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs1978225	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs1978227	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs2010848	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs2190864	0.88[CEU][hapmap]
rs2190873	0.86[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2191251	0.94[EUR][1000 genomes]
rs2238284	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2283424	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs2283426	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2332687	0.93[EUR][1000 genomes]
rs2332699	0.98[ASN][1000 genomes]
rs36318	0.89[GIH][hapmap]
rs36332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36340	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36344	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36345	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36350	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36360	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs36361	0.87[ASN][1000 genomes]
rs36363	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3825716	0.81[JPT][hapmap]
rs4899405	0.99[ASN][1000 genomes]
rs4902964	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs7148606	0.81[EUR][1000 genomes]
rs7152936	0.88[ASN][1000 genomes]
rs7152951	0.91[ASN][1000 genomes]
rs7155855	0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[TSI][hapmap]
rs960431	0.89[ASN][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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1345	chr14:72349589-72395819	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36341	ACTN1	cis	cerebellum	SCAN
rs36341	DLST	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72386200-72396800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:72390200-72390800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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