Variant report

Variant	rs1289395
Chromosome Location	chr1:227042462-227042463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1046240	0.83[EUR][1000 genomes]
rs1150897	0.86[EUR][1000 genomes]
rs1150900	0.86[EUR][1000 genomes]
rs12086302	0.86[EUR][1000 genomes]
rs1295638	0.83[EUR][1000 genomes]
rs1295641	0.83[EUR][1000 genomes]
rs1295643	0.83[EUR][1000 genomes]
rs1296171	0.83[EUR][1000 genomes]
rs1800674	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2236914	0.82[EUR][1000 genomes]
rs2236915	0.82[EUR][1000 genomes]
rs2793461	0.83[EUR][1000 genomes]
rs2855559	0.82[EUR][1000 genomes]
rs2855560	0.82[EUR][1000 genomes]
rs2855562	0.94[EUR][1000 genomes]
rs2855564	0.81[EUR][1000 genomes]
rs4653470	0.82[EUR][1000 genomes]
rs6759	0.83[EUR][1000 genomes]
rs7530245	0.81[EUR][1000 genomes]
rs7530370	0.84[EUR][1000 genomes]
rs8383	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4766	chr1:227025954-227070961	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3381082	chr1:227029266-227059927	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv3450745	chr1:227035195-227044100	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1289395	PSEN2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227026800-227043800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:227037200-227043600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:227037600-227043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:227039400-227044000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:227039600-227043800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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