Variant report

Variant	rs11754486
Chromosome Location	chr6:48534083-48534084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10456594	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10456595	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10498776	0.89[EUR][1000 genomes]
rs10807394	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10948419	0.84[ASN][1000 genomes]
rs10948420	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10948421	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10948422	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10948423	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10948427	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11759229	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964499	0.85[ASN][1000 genomes]
rs11964998	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12191801	0.93[EUR][1000 genomes]
rs12194657	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199129	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12202400	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12202739	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206840	0.80[ASN][1000 genomes]
rs12207041	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12209967	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1343441	0.85[ASN][1000 genomes]
rs1427155	0.85[ASN][1000 genomes]
rs1443637	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1816832	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433661	0.85[EUR][1000 genomes]
rs2495891	0.85[EUR][1000 genomes]
rs4122442	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6458618	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68064733	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910476	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923525	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932021	0.85[ASN][1000 genomes]
rs72862593	0.82[ASN][1000 genomes]
rs72864005	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72864011	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72864060	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72864061	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72865750	0.89[EUR][1000 genomes]
rs9349446	0.81[ASN][1000 genomes]
rs9349447	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9349448	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9349449	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9357576	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357577	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357578	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9357579	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9357580	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9367313	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367314	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367315	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9367316	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9367317	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369788	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369790	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369791	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369792	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369797	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369800	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381659	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381660	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381662	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381663	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9381664	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9381665	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9381670	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9381671	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381672	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381675	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9381678	0.85[ASN][1000 genomes]
rs9381679	0.93[EUR][1000 genomes]
rs9381682	0.87[EUR][1000 genomes]
rs9381683	0.85[EUR][1000 genomes]
rs9395367	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9395368	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9395369	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9395370	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9395371	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9395382	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9395387	0.93[EUR][1000 genomes]
rs9395388	0.93[EUR][1000 genomes]
rs9395393	0.85[EUR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48531000-48535400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:48532400-48535000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:48532600-48534600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:48532600-48534800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:48532600-48535400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:48532800-48536600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:48533000-48536600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:48533200-48534400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:48533600-48534600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:48533600-48535400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:48533600-48535600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:48533800-48535600	Enhancers	HMEC	breast
13	chr6:48533800-48535800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:48533800-48536600	Enhancers	NHEK	skin

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