Variant report

Variant	rs1256031
Chromosome Location	chr14:64746179-64746180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10143616	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs10148269	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs1256030	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1256033	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256036	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs1256037	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs1256038	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs1256039	0.92[EUR][1000 genomes]
rs1256040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1256041	0.90[EUR][1000 genomes]
rs1256042	0.92[EUR][1000 genomes]
rs1256043	0.83[CEU][hapmap];0.91[EUR][1000 genomes]
rs1256044	0.85[CEU][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs1256045	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs1256046	0.92[EUR][1000 genomes]
rs1256048	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs1256056	0.93[GIH][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs1256059	0.93[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs1256061	0.85[JPT][hapmap]
rs1256065	0.95[GIH][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs1269056	0.85[CEU][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs1271573	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs3020445	0.81[CEU][hapmap];0.83[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs3783736	0.89[GIH][hapmap]
rs6573552	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573553	0.92[CEU][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs7229	0.93[GIH][hapmap];0.84[TSI][hapmap]
rs915057	0.93[GIH][hapmap]
rs928554	0.93[GIH][hapmap];0.82[TSI][hapmap]
rs960069	0.83[CEU][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes]
rs960070	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1307	chr14:64742037-64787315	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1256031	ESR2	cis	Skin Sun Exposed Lower leg	GTEx
rs1256031	SYNE2	cis	multi-tissue	Pritchard
rs1256031	MTHFD1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64727600-64757600	Weak transcription	Ovary	ovary
2	chr14:64735400-64757200	Weak transcription	Thymus	Thymus
3	chr14:64744800-64746200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:64745000-64746800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:64745200-64746200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:64745800-64746400	Enhancers	K562	blood
7	chr14:64746000-64747600	Enhancers	HUVEC	blood vessel

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