Variant report

Variant	rs7141889
Chromosome Location	chr14:56628736-56628737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10152004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1382974	0.80[EUR][1000 genomes]
rs17091112	0.86[ASN][1000 genomes]
rs2228708	0.95[ASN][1000 genomes]
rs3783659	0.93[ASN][1000 genomes]
rs3898605	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4636823	0.94[ASN][1000 genomes]
rs6573085	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7141484	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7141949	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7161103	0.80[EUR][1000 genomes]
rs7161274	0.83[EUR][1000 genomes]
rs8011852	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7141889	PELI2	cis	cerebellar cortex	BrainEAC
rs7141889	PELI2	cis	intralobular white matter	BrainEAC
rs7141889	PELI2	cis	temporal cortex	BrainEAC
rs7141889	PELI2	cis	brain	BrainEAC

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56615600-56639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:56616800-56640200	Weak transcription	Fetal Stomach	stomach
3	chr14:56618000-56629200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:56621400-56637600	Weak transcription	Small Intestine	intestine
5	chr14:56624600-56629600	Enhancers	Dnd41	blood
6	chr14:56627000-56629200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:56627200-56629200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:56627200-56633400	Weak transcription	Thymus	Thymus
9	chr14:56627200-56634400	Weak transcription	Pancreas	Pancrea
10	chr14:56627200-56645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:56627400-56634400	Weak transcription	Stomach Mucosa	stomach
12	chr14:56628000-56629000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:56628200-56633400	Weak transcription	Fetal Thymus	thymus

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Input of quick search could be:

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

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