Variant report

Variant	rs11964998
Chromosome Location	chr6:48597978-48597979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10456594	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10456595	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10498776	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10807394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948420	0.84[ASN][1000 genomes]
rs10948421	0.84[ASN][1000 genomes]
rs10948422	0.85[ASN][1000 genomes]
rs10948423	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10948427	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10948435	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11754486	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11759229	0.85[ASN][1000 genomes]
rs11964499	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965358	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11967722	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12191801	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12194657	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12199129	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12202400	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12202739	0.85[ASN][1000 genomes]
rs12207041	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12209967	0.85[ASN][1000 genomes]
rs1343441	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427155	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443637	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1816832	0.85[ASN][1000 genomes]
rs2433661	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2495891	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4122442	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6458618	0.85[ASN][1000 genomes]
rs68064733	0.85[ASN][1000 genomes]
rs6910476	0.85[ASN][1000 genomes]
rs6923525	0.85[ASN][1000 genomes]
rs6932021	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72864005	0.85[ASN][1000 genomes]
rs72864011	0.85[ASN][1000 genomes]
rs72864060	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72864061	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72865750	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9349447	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9349448	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9349449	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9357576	0.85[ASN][1000 genomes]
rs9357577	0.85[ASN][1000 genomes]
rs9357578	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9357579	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9357580	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9367313	0.85[ASN][1000 genomes]
rs9367314	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9367315	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9367316	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9367317	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9369788	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9369790	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9369791	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9369792	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9369797	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9369800	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9381659	0.85[ASN][1000 genomes]
rs9381660	0.85[ASN][1000 genomes]
rs9381662	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9381663	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9381664	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9381665	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9381670	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9381671	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9381672	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9381675	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9381678	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381679	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381682	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381683	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9395367	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9395368	0.83[ASN][1000 genomes]
rs9395369	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9395371	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9395382	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9395387	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9395388	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9395393	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9395394	0.81[AMR][1000 genomes];0.86[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	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
6	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
7	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
8	esv2752125	chr6:48575963-48718589	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48594200-48598200	Weak transcription	NHEK	skin
2	chr6:48597800-48598600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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