Variant report

Variant	rs1955491
Chromosome Location	chr14:33186546-33186547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10137622	0.81[ASN][1000 genomes]
rs10148639	0.81[ASN][1000 genomes]
rs11156761	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11622735	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628548	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12886214	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12886313	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1950221	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955499	0.81[EUR][1000 genomes]
rs2057122	0.81[EUR][1000 genomes]
rs2383372	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4462503	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs55924110	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61604078	0.81[ASN][1000 genomes]
rs6571550	0.90[EUR][1000 genomes]
rs72669820	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1955491	EAPP	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33172600-33191600	Weak transcription	Psoas Muscle	Psoas
2	chr14:33173200-33194800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:33178800-33191600	Weak transcription	Right Ventricle	heart
4	chr14:33179000-33193400	Weak transcription	HSMMtube	muscle
5	chr14:33180400-33193400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:33180600-33191800	Weak transcription	Left Ventricle	heart
7	chr14:33180600-33193800	Weak transcription	Fetal Stomach	stomach
8	chr14:33180800-33194600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:33181000-33188200	Weak transcription	Brain Angular Gyrus	brain
10	chr14:33181000-33193000	Weak transcription	Brain Substantia Nigra	brain
11	chr14:33183400-33190000	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:33183400-33193000	Weak transcription	Brain Anterior Caudate	brain
13	chr14:33183600-33194000	Weak transcription	Aorta	Aorta
14	chr14:33186200-33189000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:33186200-33196200	Enhancers	Fetal Heart	heart
16	chr14:33186400-33188600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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