Variant report

Variant	rs4948154
Chromosome Location	chr7:56664756-56664757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10215703	0.90[CHB][hapmap]
rs11970784	0.88[ASN][1000 genomes]
rs11973878	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976165	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs11978242	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs11981923	0.88[ASN][1000 genomes]
rs11982672	0.88[ASN][1000 genomes]
rs11982992	0.90[ASN][1000 genomes]
rs11984288	0.88[ASN][1000 genomes]
rs12537381	0.88[ASN][1000 genomes]
rs12719002	0.90[CHB][hapmap]
rs12719003	0.91[CHB][hapmap]
rs13245583	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs13310169	0.90[ASN][1000 genomes]
rs1514103	0.88[ASN][1000 genomes]
rs1601913	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1606625	0.86[ASN][1000 genomes]
rs1606626	0.88[ASN][1000 genomes]
rs1606627	0.88[ASN][1000 genomes]
rs1606628	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1606629	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs17136282	0.88[ASN][1000 genomes]
rs17153055	0.90[ASN][1000 genomes]
rs17172540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17172548	0.90[ASN][1000 genomes]
rs1825941	0.88[ASN][1000 genomes]
rs1825942	0.88[ASN][1000 genomes]
rs1825943	0.88[ASN][1000 genomes]
rs1844165	0.88[ASN][1000 genomes]
rs1849669	0.88[ASN][1000 genomes]
rs1849670	0.88[ASN][1000 genomes]
rs1849671	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs1849672	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1949247	0.88[ASN][1000 genomes]
rs1949248	0.88[ASN][1000 genomes]
rs1949249	0.88[ASN][1000 genomes]
rs1949250	0.88[ASN][1000 genomes]
rs3749500	0.90[CHB][hapmap]
rs3749502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3828495	0.91[CHB][hapmap]
rs4095658	0.84[ASN][1000 genomes]
rs4495375	0.88[ASN][1000 genomes]
rs4534091	0.88[ASN][1000 genomes]
rs4545043	0.88[ASN][1000 genomes]
rs4599764	0.88[ASN][1000 genomes]
rs4615523	0.88[ASN][1000 genomes]
rs4624982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4636158	0.88[ASN][1000 genomes]
rs4947544	1.00[AFR][1000 genomes]
rs4947548	1.00[AFR][1000 genomes]
rs4947555	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4948148	1.00[AFR][1000 genomes]
rs4948149	1.00[AFR][1000 genomes]
rs4948161	0.88[ASN][1000 genomes]
rs4948162	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4948163	0.88[ASN][1000 genomes]
rs4948164	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4948170	0.88[ASN][1000 genomes]
rs57079967	0.84[ASN][1000 genomes]
rs57885398	0.88[ASN][1000 genomes]
rs58687975	0.86[ASN][1000 genomes]
rs60974901	0.88[ASN][1000 genomes]
rs61646266	0.83[ASN][1000 genomes]
rs66785139	0.88[ASN][1000 genomes]
rs67090516	0.90[ASN][1000 genomes]
rs67192391	0.88[ASN][1000 genomes]
rs67635886	0.86[ASN][1000 genomes]
rs68099949	0.88[ASN][1000 genomes]
rs68161740	0.90[ASN][1000 genomes]
rs68179256	0.88[ASN][1000 genomes]
rs73343697	0.88[ASN][1000 genomes]
rs7785531	0.91[CHB][hapmap]
rs7799034	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs7802014	0.88[ASN][1000 genomes]
rs7802180	0.88[ASN][1000 genomes]
rs7804588	0.88[ASN][1000 genomes]
rs7805333	0.88[ASN][1000 genomes]
rs7811082	0.88[ASN][1000 genomes]
rs9642416	0.90[ASN][1000 genomes]
rs9642417	0.90[ASN][1000 genomes]
rs9642610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9642614	0.90[ASN][1000 genomes]
rs9642615	0.90[ASN][1000 genomes]
rs9642617	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033163	chr7:56307057-56677865	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv538863	chr7:56307057-56677865	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv427783	chr7:56334626-56983646	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1022563	chr7:56383876-57318888	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
5	nsv1016255	chr7:56453095-56835595	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv888066	chr7:56466740-56693762	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1028678	chr7:56511649-56795206	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv538864	chr7:56511649-56795206	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1020833	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv538865	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
11	nsv8090	chr7:56511877-56772523	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1017561	chr7:56512618-57334136	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
13	nsv831009	chr7:56566629-56754313	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1030968	chr7:56610656-56835595	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv5758	chr7:56637221-56705333	ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56663800-56665400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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