Variant report

Variant	rs68139854
Chromosome Location	chr1:45529804-45529805
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	chr1:45284099..45286041-chr1:45529730..45532603,2	K562	blood:
2	chr1:45524312..45527029-chr1:45527867..45530740,2	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11211075	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211077	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211080	0.97[EUR][1000 genomes]
rs1143726	0.97[EUR][1000 genomes]
rs1143727	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144866	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144867	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144870	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144871	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1152017	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1152018	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1152020	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1152022	1.00[EUR][1000 genomes]
rs11585488	0.86[EUR][1000 genomes]
rs11588448	1.00[EUR][1000 genomes]
rs1226722	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1226723	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1226727	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1226728	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1226736	0.94[EUR][1000 genomes]
rs1226740	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1226749	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1226912	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12750360	1.00[EUR][1000 genomes]
rs16832411	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1698295	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1938302	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1938406	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2211644	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2356304	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2883902	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2997400	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2997462	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3009973	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009976	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009978	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3121731	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3121770	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3128437	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3128443	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6429558	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700502	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6702389	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517524	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7528468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7548075	1.00[EUR][1000 genomes]
rs7552211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv945714	chr1:45529328-45533650	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45524600-45532800	Weak transcription	Brain Substantia Nigra	brain
2	chr1:45525200-45534600	Weak transcription	Brain Angular Gyrus	brain
3	chr1:45525800-45558600	Weak transcription	HepG2	liver
4	chr1:45526000-45530200	Weak transcription	Fetal Brain Female	brain
5	chr1:45526200-45532000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:45526600-45532400	Weak transcription	Ovary	ovary

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