Variant report

Variant	rs73678954
Chromosome Location	chr7:13048762-13048763
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:13044871..13047028-chr7:13047401..13048917,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11973913	1.00[AFR][1000 genomes]
rs11980133	1.00[AFR][1000 genomes]
rs11980269	0.89[AFR][1000 genomes]
rs11980293	1.00[AFR][1000 genomes]
rs11981386	1.00[AFR][1000 genomes]
rs55807394	1.00[AFR][1000 genomes]
rs55998412	0.89[AFR][1000 genomes]
rs57218207	0.87[AFR][1000 genomes]
rs59807510	1.00[AFR][1000 genomes]
rs60038254	1.00[AFR][1000 genomes]
rs60149324	1.00[AFR][1000 genomes]
rs60506597	1.00[AFR][1000 genomes]
rs6961047	1.00[AFR][1000 genomes]
rs73678951	1.00[AFR][1000 genomes]
rs73678952	1.00[AFR][1000 genomes]
rs73678955	1.00[AFR][1000 genomes]
rs73678958	1.00[AFR][1000 genomes]
rs73678960	0.89[AFR][1000 genomes]
rs73678962	0.89[AFR][1000 genomes]
rs73678963	1.00[AFR][1000 genomes]
rs73678964	0.89[AFR][1000 genomes]
rs73678966	0.89[AFR][1000 genomes]
rs73678969	0.89[AFR][1000 genomes]
rs73678970	0.89[AFR][1000 genomes]
rs73678973	1.00[AFR][1000 genomes]
rs73678974	1.00[AFR][1000 genomes]
rs7787922	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv464384	chr7:12907178-13077065	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv606238	chr7:12907178-13077065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1026624	chr7:12963907-13123408	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv887642	chr7:12973609-13067198	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13036800-13049000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:13048000-13049200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:13048400-13049200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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