Variant report

Variant	rs1018976
Chromosome Location	chr14:71306909-71306910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71304429..71307285-chr14:71311780..71314188,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10129495	1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs10131500	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10140775	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10141804	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs10143748	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10147150	0.82[EUR][1000 genomes]
rs10873243	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs11158882	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs11621281	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11624934	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs11625206	0.86[MEX][hapmap]
rs11628333	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12433458	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12434514	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12879624	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12883778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12886294	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886990	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs12895794	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12897648	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs17108492	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2158530	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs2158531	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap]
rs35014968	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35386983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36570	0.90[CHD][hapmap]
rs4899377	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902843	0.83[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs4902846	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs61194329	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71425222	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7153775	0.83[MEX][hapmap]
rs8019261	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs8019448	1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap]
rs8019513	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]
rs8020663	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9323548	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1018976	PSEN1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71305800-71309400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr14:71306200-71308600	Weak transcription	Fetal Intestine Large	intestine

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