Variant report

Variant	rs23219
Chromosome Location	chr14:72395223-72395224
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10147777	0.99[ASN][1000 genomes]
rs11846754	0.99[ASN][1000 genomes]
rs11850532	0.96[ASN][1000 genomes]
rs12884777	0.81[JPT][hapmap]
rs17104979	0.81[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs17105025	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs17105032	0.92[CHB][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap]
rs17105061	0.82[CHB][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap]
rs1860105	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2109268	0.91[GIH][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.81[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs2190872	0.93[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2238274	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2238275	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2238276	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2238278	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2238283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2238285	0.91[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2239270	0.91[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2283422	0.81[JPT][hapmap]
rs2332701	0.82[ASN][1000 genomes]
rs2332706	0.87[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs35077074	0.87[ASN][1000 genomes]
rs35479711	0.85[ASN][1000 genomes]
rs36327	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36331	0.86[CEU][hapmap]
rs4902960	0.82[CHB][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap]
rs4902961	0.81[JPT][hapmap]
rs4902965	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs59307289	0.93[ASN][1000 genomes]
rs7143919	0.81[JPT][hapmap]
rs7156200	0.81[JPT][hapmap]
rs764624	0.82[CHB][hapmap];0.87[JPT][hapmap]

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
rs23219	HEATR4	cis	cerebellum	SCAN
rs23219	RGS6	cis	cerebellum	SCAN

Chromatin state (count:1 , 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

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