Variant report

Variant	rs368393
Chromosome Location	chr1:45571546-45571547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45569785..45572164-chr1:45588128..45590653,3	K562	blood:
2	chr1:45569785..45571943-chr1:45588128..45590653,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1226670	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1226746	0.81[EUR][1000 genomes]
rs1226747	0.81[EUR][1000 genomes]
rs1226748	0.81[EUR][1000 genomes]
rs2088956	0.87[EUR][1000 genomes]
rs34134455	0.81[EUR][1000 genomes]
rs346684	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs346693	0.88[EUR][1000 genomes]
rs346695	0.88[EUR][1000 genomes]
rs346697	0.89[EUR][1000 genomes]
rs346698	0.89[EUR][1000 genomes]
rs346700	0.91[EUR][1000 genomes]
rs346702	0.89[EUR][1000 genomes]
rs346705	0.90[EUR][1000 genomes]
rs346706	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs346707	0.90[EUR][1000 genomes]
rs346708	0.86[EUR][1000 genomes]
rs346712	0.88[EUR][1000 genomes]
rs346716	0.88[EUR][1000 genomes]
rs346717	0.88[EUR][1000 genomes]
rs346719	0.88[EUR][1000 genomes]
rs346721	0.88[EUR][1000 genomes]
rs346724	0.88[EUR][1000 genomes]
rs346729	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs346732	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs346734	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs346735	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3738246	0.87[EUR][1000 genomes]
rs454624	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4660295	0.81[EUR][1000 genomes]
rs4660834	0.84[EUR][1000 genomes]
rs4660839	0.81[EUR][1000 genomes]
rs4660841	0.81[EUR][1000 genomes]
rs58934647	0.81[EUR][1000 genomes]
rs59220391	0.84[EUR][1000 genomes]
rs6688318	0.84[EUR][1000 genomes]
rs6702327	0.87[EUR][1000 genomes]
rs72684493	0.81[EUR][1000 genomes]
rs974143	0.83[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	esv3374969	chr1:45570890-45573738	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45568200-45594600	Weak transcription	Right Atrium	heart
2	chr1:45569000-45578000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:45570600-45572400	Weak transcription	HepG2	liver
4	chr1:45571400-45572400	ZNF genes & repeats	Fetal Stomach	stomach

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