Variant report

Variant	rs12901747
Chromosome Location	chr15:45552853-45552854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11855527	0.81[EUR][1000 genomes]
rs12910143	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12913645	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1706772	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1706824	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1719231	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1719237	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2413769	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2687512	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8033629	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8039476	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs12901747	SPATA5L1	cis	Thyroid	GTEx
rs12901747	SPATA5L1	Cis_1M	lymphoblastoid	RTeQTL
rs12901747	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs12901747	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs12901747	SPATA5L1	cis	Whole Blood	GTEx
rs12901747	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs12901747	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx
rs12901747	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs12901747	GATM	cis	Muscle Skeletal	GTEx
rs12901747	SPATA5L1	cis	Esophagus Muscularis	GTEx
rs12901747	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs12901747	CTD-2651B20.3	cis	lung	GTEx
rs12901747	CTD-2651B20.3	cis	Heart Left Ventricle	GTEx
rs12901747	CTD-2651B20.3	cis	Thyroid	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45544400-45554600	Weak transcription	Fetal Intestine Small	intestine
2	chr15:45545800-45554600	Weak transcription	Fetal Intestine Large	intestine
3	chr15:45546400-45556800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:45547800-45556000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:45547800-45559600	Weak transcription	Fetal Stomach	stomach
6	chr15:45550200-45570600	Weak transcription	Stomach Mucosa	stomach
7	chr15:45551800-45553600	Enhancers	Primary hematopoietic stem cells	blood
8	chr15:45551800-45554200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:45552600-45554000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:45552600-45570600	Weak transcription	Pancreas	Pancrea
11	chr15:45552800-45556400	Enhancers	HepG2	liver

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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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