Variant report

Variant	rs1925054
Chromosome Location	chr13:55575383-55575384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1925053	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2182041	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2409566	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs263812	0.94[EUR][1000 genomes]
rs4885567	0.88[EUR][1000 genomes]
rs6561810	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993823	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9597081	0.83[AFR][1000 genomes]

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	nsv561702	chr13:55086271-55808127	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv561704	chr13:55395253-55764633	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
3	nsv528493	chr13:55438905-55602402	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv916484	chr13:55528644-55979043	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv530721	chr13:55562857-56355454	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
6	nsv900097	chr13:55563725-55637545	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv900098	chr13:55563725-55778669	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1051619	chr13:55565743-56039579	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	esv3416016	chr13:55569500-55602600	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1925054	NEK3	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55570800-55575600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:55572800-55576800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr13:55573200-55576800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:55573200-55577800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:55573400-55576000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:55573400-55577000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:55573600-55576400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr13:55574800-55575400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:55574800-55576600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:55574800-55578000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:55575200-55575400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr13:55575200-55575800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:55575200-55576000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:55575200-55576200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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