Variant report

Variant	rs10431730
Chromosome Location	chr14:78942478-78942479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1015964	0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs1030123	0.85[CEU][hapmap]
rs1030124	0.84[CEU][hapmap]
rs10483907	0.81[EUR][1000 genomes]
rs11159362	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1122840	0.85[CEU][hapmap];0.88[GIH][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs1122841	0.81[EUR][1000 genomes]
rs1122842	0.81[EUR][1000 genomes]
rs1122898	0.81[EUR][1000 genomes]
rs11622766	0.95[CEU][hapmap]
rs11622820	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs11625200	1.00[ASW][hapmap];0.95[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11625544	1.00[ASW][hapmap];0.90[CEU][hapmap];0.89[CHB][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11629123	0.85[CEU][hapmap]
rs11844960	0.81[EUR][1000 genomes]
rs12586255	0.82[CEU][hapmap]
rs12588305	0.81[EUR][1000 genomes]
rs1468743	0.81[CEU][hapmap];0.86[GIH][hapmap];0.80[TSI][hapmap];0.86[EUR][1000 genomes]
rs1544622	0.86[GIH][hapmap];0.80[TSI][hapmap]
rs1544623	0.85[CEU][hapmap];0.93[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs17755949	0.89[CHB][hapmap]
rs17829186	0.84[CHB][hapmap];0.80[EUR][1000 genomes]
rs1990531	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2098518	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2193670	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2366101	0.86[GIH][hapmap]
rs35810359	0.81[EUR][1000 genomes]
rs4243660	0.85[CEU][hapmap]
rs4899711	0.94[CHB][hapmap];0.81[EUR][1000 genomes]
rs4903768	0.86[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903776	0.80[EUR][1000 genomes]
rs4903777	0.87[EUR][1000 genomes]
rs4903779	0.86[EUR][1000 genomes]
rs59161552	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72681556	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[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	nsv832837	chr14:78766805-78946526	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10431730	HEATR4	cis	parietal	SCAN
rs10431730	ALDH6A1	cis	cerebellum	SCAN
rs10431730	ESRRB	cis	cerebellum	SCAN
rs10431730	HEATR4	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78942000-78942800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr14:78942000-78942800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:78942000-78942800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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