Variant report

Variant	rs6689933
Chromosome Location	chr1:76837471-76837472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1016715	0.82[EUR][1000 genomes]
rs10747346	0.82[EUR][1000 genomes]
rs10747347	0.82[EUR][1000 genomes]
rs10782619	0.81[EUR][1000 genomes]
rs10873881	0.82[EUR][1000 genomes]
rs11162136	0.82[EUR][1000 genomes]
rs11162137	0.82[EUR][1000 genomes]
rs11162138	0.83[CHB][hapmap];0.82[EUR][1000 genomes]
rs11162139	0.83[CHB][hapmap];0.84[CHD][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs11162144	0.82[CHB][hapmap]
rs11162145	0.80[EUR][1000 genomes]
rs12021906	0.82[EUR][1000 genomes]
rs12032409	0.81[CHB][hapmap]
rs12037958	0.81[EUR][1000 genomes]
rs12038570	0.82[CHB][hapmap]
rs12040892	0.82[EUR][1000 genomes]
rs12043272	0.82[EUR][1000 genomes]
rs12046895	0.82[EUR][1000 genomes]
rs12128122	0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[ASN][1000 genomes]
rs12562224	0.82[CHB][hapmap]
rs1325291	0.81[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs1325292	0.82[EUR][1000 genomes]
rs1359467	0.82[EUR][1000 genomes]
rs1359470	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1408866	0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs1952022	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2031482	0.82[EUR][1000 genomes]
rs2147792	0.83[CHB][hapmap];0.82[EUR][1000 genomes]
rs4459158	0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs4576696	0.82[EUR][1000 genomes]
rs4638174	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs6664863	0.83[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6666049	0.80[EUR][1000 genomes]
rs6677296	0.82[EUR][1000 genomes]
rs7339997	0.82[EUR][1000 genomes]
rs7340082	0.82[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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006776	chr1:76777323-76899975	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1014231	chr1:76781140-76880630	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv462006	chr1:76826279-77042405	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv546585	chr1:76826279-77042405	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76832800-76849200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76833200-76847400	Weak transcription	Fetal Stomach	stomach
3	chr1:76837400-76837600	Enhancers	HUES64 Cell Line	embryonic stem cell

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