Variant report

Variant	rs2046796
Chromosome Location	chr3:87834410-87834411
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12485486	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12488028	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12489435	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13316021	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1489780	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1873209	0.88[ASN][1000 genomes]
rs1873210	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2880695	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28872274	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4630962	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859104	0.95[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55754932	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55788242	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55807523	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56125632	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56169023	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56386821	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67303034	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6779623	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7643136	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9867061	0.91[CEU][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590918	chr3:87323334-87910931	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv877142	chr3:87630433-87854277	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv877143	chr3:87630433-87860130	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv877144	chr3:87691029-87845957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv834756	chr3:87763793-87938179	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1009981	chr3:87821573-88003956	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv536634	chr3:87821573-88003956	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2046796	HTR1F	cis	parietal	SCAN
rs2046796	CGGBP1	cis	parietal	SCAN
rs2046796	HTR1F	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87834400-87834600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:87834400-87837200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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