Variant report

Variant	rs7156194
Chromosome Location	chr14:71698616-71698617
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11623477	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627918	0.86[CEU][hapmap]
rs11844339	1.00[ASN][1000 genomes]
rs11845249	0.86[CEU][hapmap]
rs17766986	1.00[ASN][1000 genomes]
rs17767296	0.93[MEX][hapmap]
rs1990035	0.93[MEX][hapmap]
rs2108707	0.81[CEU][hapmap]
rs45517434	1.00[ASN][1000 genomes]
rs4902905	1.00[ASN][1000 genomes]
rs4902908	1.00[ASN][1000 genomes]
rs4902916	0.85[MEX][hapmap]
rs55896578	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57204407	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57723945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58952176	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59060154	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989175	1.00[ASN][1000 genomes]
rs61989177	1.00[ASN][1000 genomes]
rs61989179	1.00[ASN][1000 genomes]
rs61989180	1.00[ASN][1000 genomes]
rs61989234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989239	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61989240	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990404	1.00[ASN][1000 genomes]
rs61990406	1.00[ASN][1000 genomes]
rs61990407	1.00[ASN][1000 genomes]
rs61990408	1.00[ASN][1000 genomes]
rs61990409	1.00[ASN][1000 genomes]
rs61990410	1.00[ASN][1000 genomes]
rs61990411	1.00[ASN][1000 genomes]
rs61990412	1.00[ASN][1000 genomes]
rs61990414	1.00[ASN][1000 genomes]
rs61990416	1.00[ASN][1000 genomes]
rs61990417	1.00[ASN][1000 genomes]
rs61990418	1.00[ASN][1000 genomes]
rs61990420	1.00[ASN][1000 genomes]
rs61990451	1.00[ASN][1000 genomes]
rs61990452	1.00[ASN][1000 genomes]
rs61990453	1.00[ASN][1000 genomes]
rs61990458	1.00[ASN][1000 genomes]
rs61992061	1.00[ASN][1000 genomes]
rs61992066	1.00[ASN][1000 genomes]
rs61992068	1.00[ASN][1000 genomes]
rs61992069	1.00[ASN][1000 genomes]
rs61992070	1.00[ASN][1000 genomes]
rs61992080	1.00[ASN][1000 genomes]
rs61992081	1.00[ASN][1000 genomes]
rs61992086	1.00[ASN][1000 genomes]
rs61992088	1.00[ASN][1000 genomes]
rs61992090	1.00[ASN][1000 genomes]
rs61992091	1.00[ASN][1000 genomes]
rs6574006	0.85[MEX][hapmap]
rs7146169	0.93[MEX][hapmap]
rs7155259	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159252	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160587	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7492426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7156194	PCNX	cis	cerebellum	SCAN
rs7156194	SLC8A3	cis	cerebellum	SCAN
rs7156194	SIPA1L1	cis	cerebellum	SCAN
rs7156194	PCNX	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71680600-71702600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:71687400-71699000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:71695600-71702600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:71695800-71709400	Weak transcription	Pancreas	Pancrea
5	chr14:71697400-71699600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:71697600-71699000	Enhancers	Esophagus	oesophagus
7	chr14:71698400-71699000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:71698600-71698800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr14:71698600-71698800	Enhancers	K562	blood
10	chr14:71698600-71699200	Enhancers	Primary monocytes fromperipheralblood	blood

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