Variant report

Variant	rs1568404
Chromosome Location	chr14:72736969-72736970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10131012	0.81[JPT][hapmap]
rs10134489	0.81[JPT][hapmap]
rs10134542	0.81[JPT][hapmap]
rs10149098	0.81[JPT][hapmap]
rs10150242	0.81[JPT][hapmap]
rs1076317	0.92[CEU][hapmap];0.82[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11847074	0.82[AFR][1000 genomes]
rs11848731	0.90[YRI][hapmap]
rs11849202	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11851057	0.90[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12148024	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs12432346	0.81[JPT][hapmap]
rs12894979	0.90[JPT][hapmap]
rs1402056	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs1520326	0.81[JPT][hapmap]
rs1544487	0.81[JPT][hapmap]
rs1558073	0.81[JPT][hapmap]
rs1589302	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17110207	0.86[LWK][hapmap];1.00[YRI][hapmap]
rs2079502	0.81[JPT][hapmap]
rs2108466	0.81[JPT][hapmap]
rs2238212	0.81[JPT][hapmap]
rs2238213	0.81[JPT][hapmap]
rs2238215	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2238216	0.85[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2238217	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2238218	0.81[JPT][hapmap]
rs2239257	0.81[JPT][hapmap]
rs2239258	0.81[JPT][hapmap]
rs2239261	0.81[JPT][hapmap]
rs2332807	0.81[JPT][hapmap]
rs2332808	0.81[JPT][hapmap]
rs3784049	0.81[JPT][hapmap]
rs4903003	0.81[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap]
rs4903004	0.81[JPT][hapmap]
rs6574055	0.81[JPT][hapmap]
rs6574057	0.81[JPT][hapmap]
rs68053524	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7141883	0.90[YRI][hapmap]
rs7143881	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7144302	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73302877	0.82[AFR][1000 genomes]
rs73302890	0.82[AFR][1000 genomes]
rs73302900	0.82[AFR][1000 genomes]
rs7350728	0.81[JPT][hapmap]
rs740337	0.81[JPT][hapmap]
rs8007922	0.81[JPT][hapmap]
rs847241	0.81[JPT][hapmap]
rs847345	0.81[JPT][hapmap]
rs847354	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs847356	0.82[CEU][hapmap];0.91[TSI][hapmap]
rs847357	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs847359	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv437796	chr14:72735003-72739506	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1568404	C14orf43	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72723400-72747600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72732200-72737000	Weak transcription	Left Ventricle	heart
3	chr14:72732600-72751000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:72733000-72737000	Weak transcription	Right Ventricle	heart
5	chr14:72735000-72740000	Weak transcription	Fetal Heart	heart
6	chr14:72735800-72737400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:72735800-72737600	Enhancers	Fetal Brain Male	brain
8	chr14:72736200-72737000	Weak transcription	Fetal Brain Female	brain
9	chr14:72736600-72737800	Enhancers	Brain Germinal Matrix	brain
10	chr14:72736800-72737200	Enhancers	Adipose Nuclei	Adipose
11	chr14:72736800-72737200	Enhancers	Brain Angular Gyrus	brain
12	chr14:72736800-72737200	Enhancers	Brain Anterior Caudate	brain
13	chr14:72736800-72737200	Enhancers	Brain Hippocampus Middle	brain
14	chr14:72736800-72737600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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