Variant report

Variant	rs11624311
Chromosome Location	chr14:79453542-79453543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10131645	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10133874	0.81[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs10135754	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs10135769	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10139452	0.84[ASN][1000 genomes]
rs10139460	0.81[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs10141828	0.81[CHB][hapmap];0.91[CHD][hapmap]
rs10141996	0.86[ASN][1000 genomes]
rs10146149	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs10146180	0.81[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs10146527	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs10146542	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10147558	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10147940	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10150011	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10151372	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs10151590	0.81[CHB][hapmap]
rs11625343	0.81[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap]
rs11627661	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs11627905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11627971	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12323794	0.81[CHB][hapmap];0.87[CHD][hapmap]
rs12586394	0.81[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1405474	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs17108575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1995411	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2062740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2062741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2062744	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2088966	0.88[JPT][hapmap]
rs2088967	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2202167	0.81[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs2202171	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2370895	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs31406	0.98[ASN][1000 genomes]
rs6574493	0.81[CHB][hapmap]
rs7150552	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs7157779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8005334	0.81[CHB][hapmap]
rs8009383	0.81[CHB][hapmap];0.91[CHD][hapmap]
rs8011832	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs8014314	0.86[ASN][1000 genomes]
rs8016232	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8016756	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs8017018	0.81[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs8017027	0.91[ASN][1000 genomes]
rs874316	0.91[ASN][1000 genomes]
rs9323670	1.00[JPT][hapmap]
rs9323671	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs937648	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs9652299	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1041198	chr14:79452019-79482977	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11624311	C14orf148	cis	parietal	SCAN
rs11624311	VASH1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79451600-79453600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:79452600-79453600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:79452600-79454200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:79452600-79454800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr14:79452800-79454400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr14:79453000-79453600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:79453200-79453600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:79453400-79453600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:79453400-79453600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr14:79453400-79454600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr14:79453400-79454800	Enhancers	HUES6 Cell Line	embryonic stem cell

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