Variant report

Variant	rs10948421
Chromosome Location	chr6:48528383-48528384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10456594	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10456595	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10807394	0.84[ASN][1000 genomes]
rs10948419	0.83[ASN][1000 genomes]
rs10948420	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948422	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10948423	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10948427	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11754486	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11759229	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11964499	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11964998	0.84[ASN][1000 genomes]
rs12194657	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12199129	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12202400	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12202739	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12207041	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12209967	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1343441	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1427155	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1443637	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1816832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4122442	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6458618	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68064733	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6910476	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6923525	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6932021	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72862593	0.81[ASN][1000 genomes]
rs72864005	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72864011	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72864060	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72864061	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9349447	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9349448	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9349449	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357576	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9357577	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9357578	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357579	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357580	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9367313	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9367314	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9367315	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9367316	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9367317	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9369788	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9369790	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9369791	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9369792	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9369797	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9369800	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9381659	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381660	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381662	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381663	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381664	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381665	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381670	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381671	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9381672	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9381675	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9381678	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9395367	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9395368	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9395369	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9395370	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9395371	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9395382	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv603035	chr6:47902243-48700995	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv885877	chr6:48117685-48626930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv917050	chr6:48168742-48578496	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv830657	chr6:48387714-48566656	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv462942	chr6:48480264-48598199	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv885878	chr6:48481466-48623408	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv830658	chr6:48497904-48632523	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48526600-48531200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:48527600-48528400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:48527600-48528600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:48527800-48528600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:48527800-48528600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:48527800-48528600	Enhancers	NHEK	skin
7	chr6:48528000-48528400	Enhancers	HMEC	breast
8	chr6:48528000-48528600	Enhancers	HUVEC	blood vessel
9	chr6:48528000-48528600	Enhancers	Osteobl	bone
10	chr6:48528200-48531200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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