Variant report

Variant	rs17111103
Chromosome Location	chr12:72762565-72762566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 48 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10160913	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506655	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap]
rs10879429	1.00[CEU][hapmap]
rs10879431	1.00[CEU][hapmap]
rs11179130	1.00[ASN][1000 genomes]
rs11179139	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11179175	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179183	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179189	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs11179199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608809	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301567	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12367387	1.00[CHB][hapmap]
rs12368205	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73146948	1.00[ASN][1000 genomes]
rs73146969	1.00[ASN][1000 genomes]
rs9645830	1.00[CEU][hapmap];0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422452	chr12:72485933-73175581	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv899257	chr12:72569746-73145896	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832452	chr12:72584971-72764495	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv899258	chr12:72624088-72957899	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1044083	chr12:72647640-73275526	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv469465	chr12:72655925-73259114	Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv559363	chr12:72655925-73259114	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv868884	chr12:72664763-73241518	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1052799	chr12:72752760-72820618	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv541533	chr12:72752760-72820618	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv10499	chr12:72758024-72765117	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:48)

SNP	Gene	Cis/trans	Tissue	Source
rs17111103	ZNF280B	cis	Temporal Cortex	GTEx
rs17111103	PRRT3	cis	Temporal Cortex	GTEx
rs17111103	RPS8	cis	Temporal Cortex	GTEx
rs17111103	DNM1	cis	Temporal Cortex	GTEx
rs17111103	PKNOX2	cis	Temporal Cortex	GTEx
rs17111103	EEF1D	cis	Temporal Cortex	GTEx
rs17111103	COPG	cis	Temporal Cortex	GTEx
rs17111103	C9orf45	cis	Temporal Cortex	GTEx
rs17111103	POLR3GL	cis	Temporal Cortex	GTEx
rs17111103	SIPA1	cis	Temporal Cortex	GTEx
rs17111103	GAP43	cis	Temporal Cortex	GTEx
rs17111103	FCHSD2	cis	Temporal Cortex	GTEx
rs17111103	DBC1	cis	Temporal Cortex	GTEx
rs17111103	APBA2	cis	Temporal Cortex	GTEx
rs17111103	SERBP1	cis	Temporal Cortex	GTEx
rs17111103	CUGBP2	cis	Temporal Cortex	GTEx
rs17111103	NEFL	cis	Temporal Cortex	GTEx
rs17111103	GIMAP4	cis	Temporal Cortex	GTEx
rs17111103	NUPR1	cis	Temporal Cortex	GTEx
rs17111103	C12orf75	cis	Temporal Cortex	GTEx
rs17111103	USP11	cis	Temporal Cortex	GTEx
rs17111103	DUSP23	cis	Temporal Cortex	GTEx
rs17111103	SLC15A3	cis	Temporal Cortex	GTEx
rs17111103	MUTED	cis	Temporal Cortex	GTEx
rs17111103	GSDMD	cis	Temporal Cortex	GTEx
rs17111103	ACVR1B	cis	Temporal Cortex	GTEx
rs17111103	BST2	cis	Temporal Cortex	GTEx
rs17111103	SFRS14	cis	Temporal Cortex	GTEx
rs17111103	ANKRD57	cis	Temporal Cortex	GTEx
rs17111103	PPFIA2	cis	Temporal Cortex	GTEx
rs17111103	RPL6	cis	Temporal Cortex	GTEx
rs17111103	ATP5I	cis	Temporal Cortex	GTEx
rs17111103	TM9SF4	cis	Temporal Cortex	GTEx
rs17111103	SAMD9L	cis	Temporal Cortex	GTEx
rs17111103	HERC5	cis	Temporal Cortex	GTEx
rs17111103	GIMAP8	cis	Temporal Cortex	GTEx
rs17111103	RPS29	cis	Temporal Cortex	GTEx
rs17111103	PODN	cis	Temporal Cortex	GTEx
rs17111103	DLGAP2	cis	Temporal Cortex	GTEx
rs17111103	UNC5A	cis	Temporal Cortex	GTEx
rs17111103	NRSN2	cis	Temporal Cortex	GTEx
rs17111103	VIPR1	cis	Temporal Cortex	GTEx
rs17111103	CADM3	cis	Temporal Cortex	GTEx
rs17111103	CNTNAP1	cis	Temporal Cortex	GTEx
rs17111103	GNPDA1	cis	Temporal Cortex	GTEx
rs17111103	ARL3	cis	Temporal Cortex	GTEx
rs17111103	MYL6	cis	Temporal Cortex	GTEx
rs17111103	LPHN1	cis	Temporal Cortex	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72758600-72762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:72758600-72781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:72761200-72771200	Weak transcription	Pancreas	Pancrea
4	chr12:72761400-72765000	Enhancers	Fetal Intestine Large	intestine
5	chr12:72762400-72763000	Enhancers	Fetal Kidney	kidney
6	chr12:72762400-72764800	Enhancers	Fetal Intestine Small	intestine

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