Variant report

Variant	rs1442572
Chromosome Location	chr14:85668179-85668180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1154976	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11845138	0.95[ASN][1000 genomes]
rs12433611	0.87[ASN][1000 genomes]
rs12436689	0.87[ASN][1000 genomes]
rs1442573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626268	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1627044	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1628501	0.86[ASN][1000 genomes]
rs1632040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667524	0.86[ASN][1000 genomes]
rs1667536	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4904237	0.87[ASN][1000 genomes]
rs4904238	0.94[ASN][1000 genomes]
rs67029848	0.88[ASN][1000 genomes]
rs8004329	0.93[ASN][1000 genomes]
rs8006224	0.95[ASN][1000 genomes]
rs9805911	0.93[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	esv2751288	chr14:84815330-85704047	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1048026	chr14:85330544-85686322	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3401331	chr14:85332747-85716351	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832846	chr14:85517736-85715650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1037755	chr14:85618698-85670532	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
6	nsv1053875	chr14:85618698-85673619	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
7	nsv1036755	chr14:85620570-85670532	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1442572	SEL1L	cis	cerebellum	SCAN
rs1442572	FLRT2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85667400-85668400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr14:85667400-85669000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr14:85667600-85669200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:85667800-85668400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr14:85668000-85668400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr14:85668000-85668600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:85668000-85668600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:85668000-85668800	Enhancers	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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