Variant report

Variant	rs4687252
Chromosome Location	chr3:191411106-191411107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11712348	1.00[ASN][1000 genomes]
rs11713378	0.92[ASN][1000 genomes]
rs11715205	0.88[EUR][1000 genomes]
rs13061555	0.83[EUR][1000 genomes]
rs13089779	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13323801	0.94[ASN][1000 genomes]
rs1464650	0.96[ASN][1000 genomes]
rs1464651	0.96[ASN][1000 genomes]
rs1851684	0.83[EUR][1000 genomes]
rs1916637	0.82[EUR][1000 genomes]
rs1969415	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2365534	0.98[ASN][1000 genomes]
rs2886486	0.96[ASN][1000 genomes]
rs34180265	0.84[EUR][1000 genomes]
rs4393947	0.96[ASN][1000 genomes]
rs4434185	1.00[ASN][1000 genomes]
rs4686585	0.82[EUR][1000 genomes]
rs4687237	0.96[ASN][1000 genomes]
rs4687239	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4687246	0.83[EUR][1000 genomes]
rs4687251	1.00[ASN][1000 genomes]
rs57196585	0.92[ASN][1000 genomes]
rs57290773	1.00[ASN][1000 genomes]
rs57667341	1.00[ASN][1000 genomes]
rs6762390	1.00[ASN][1000 genomes]
rs6768840	0.83[EUR][1000 genomes]
rs73204641	0.92[ASN][1000 genomes]
rs73204669	1.00[ASN][1000 genomes]
rs7433470	0.84[ASN][1000 genomes]
rs7633696	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651123	1.00[CEU][hapmap];0.89[JPT][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs9290998	1.00[ASN][1000 genomes]
rs9840419	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846006	0.96[ASN][1000 genomes]
rs9847678	0.82[EUR][1000 genomes]
rs9863483	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9875132	0.96[ASN][1000 genomes]
rs9879803	0.94[ASN][1000 genomes]
rs9882196	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915689	chr3:191244719-191479974	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv997817	chr3:191284834-191475809	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1001082	chr3:191320636-191579587	Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1009378	chr3:191359361-191928703	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1000060	chr3:191359361-191935048	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1002112	chr3:191395769-191471002	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv461121	chr3:191395972-191431496	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv592854	chr3:191395972-191431496	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4687252	FBXO45	cis	parietal	SCAN
rs4687252	PPP1R2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191407200-191411600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:191407200-191411800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:191408800-191411600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:191409000-191411600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:191409000-191411800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:191409400-191411400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:191409400-191411600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:191409600-191411600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:191410800-191411600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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