Variant report

Variant	rs11895654
Chromosome Location	chr2:98822841-98822842
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98822445..98824064-chr2:98827178..98830158,2	K562	blood:

Variant related genes	Relation type
ENSG00000168658	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10172087	1.00[ASN][1000 genomes]
rs10181000	0.87[CHB][hapmap]
rs10190336	0.92[ASN][1000 genomes]
rs10199476	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10202618	0.80[ASN][1000 genomes]
rs10203437	0.80[ASN][1000 genomes]
rs11124096	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11124107	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs11124119	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11124121	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11673807	1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap]
rs11679920	1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap]
rs11889349	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.87[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11891512	0.96[ASN][1000 genomes]
rs11901562	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12470615	0.81[AFR][1000 genomes]
rs12478763	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12478769	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12622324	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12712256	0.86[ASN][1000 genomes]
rs12993718	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12993818	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999985	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap]
rs13013876	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13014142	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap]
rs13033263	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13394706	0.87[CHB][hapmap]
rs13408372	0.85[CHB][hapmap]
rs1451251	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1466944	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs1504679	0.80[ASN][1000 genomes]
rs17427684	0.80[ASN][1000 genomes]
rs17429208	0.87[ASW][hapmap];0.87[CHB][hapmap]
rs1875880	0.80[ASN][1000 genomes]
rs2102270	0.87[CHB][hapmap]
rs2122756	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2202387	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2221416	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];0.89[TSI][hapmap];0.80[ASN][1000 genomes]
rs2292118	0.87[CHB][hapmap]
rs2292119	1.00[CHB][hapmap]
rs4374424	0.93[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap];0.91[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4389366	0.86[ASN][1000 genomes]
rs4455212	1.00[CHB][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4477970	1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap];0.96[ASN][1000 genomes]
rs4479470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4494805	0.96[ASN][1000 genomes]
rs4535095	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4608580	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs4632400	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851122	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4851123	0.80[ASN][1000 genomes]
rs4851935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851951	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4851952	0.96[ASN][1000 genomes]
rs4851954	0.84[ASN][1000 genomes]
rs4851955	0.80[ASN][1000 genomes]
rs6543419	0.81[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6715989	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap]
rs6725543	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap]
rs6743279	0.98[ASN][1000 genomes]
rs6747344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747410	0.87[CHB][hapmap]
rs6752440	0.98[ASN][1000 genomes]
rs6754222	0.81[CHB][hapmap]
rs7574218	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7578802	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7598554	0.86[ASN][1000 genomes]
rs7601049	1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap]
rs7601503	1.00[ASN][1000 genomes]
rs7606220	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap]
rs937726	0.80[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	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1004082	chr2:98792256-98967681	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv535833	chr2:98792256-98967681	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11895654	ZNF514	cis	parietal	SCAN
rs11895654	SERPINB9	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98822200-98823600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:98822600-98823000	ZNF genes & repeats	Aorta	Aorta

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