Variant report

Variant	rs3783988
Chromosome Location	chr14:77734580-77734581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77719388..77722055-chr14:77734428..77736002,2	K562	blood:
2	chr14:77734159..77735864-chr14:77768086..77770638,2	MCF-7	breast:
3	chr14:77656618..77658691-chr14:77734209..77736747,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10130630	0.81[ASN][1000 genomes]
rs10138030	0.94[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap]
rs1055592	0.92[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11547793	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624564	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs2042045	0.91[JPT][hapmap]
rs2111699	0.81[JPT][hapmap]
rs2270422	0.81[JPT][hapmap]
rs2287387	0.88[CHD][hapmap];0.81[JPT][hapmap]
rs2287388	0.94[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs2287392	0.94[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs2363641	0.91[JPT][hapmap]
rs368855	0.84[CEU][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3759733	0.86[JPT][hapmap]
rs3783986	0.82[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs3783989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3815626	0.91[JPT][hapmap]
rs449345	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4899650	0.95[JPT][hapmap]
rs4903567	0.88[CHD][hapmap];0.81[JPT][hapmap]
rs61990291	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574367	0.91[JPT][hapmap]
rs7142812	0.91[JPT][hapmap]
rs7158951	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs7159558	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs8009261	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs8009733	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs878908	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv1361	chr14:77707417-77753024	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv902104	chr14:77720741-77756321	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3783988	ESRRB	cis	parietal	SCAN
rs3783988	EIF2B2	cis	cerebellum	SCAN
rs3783988	POMT2	cis	parietal	SCAN
rs3783988	ENTPD5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77733000-77734800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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