Variant report

Variant	rs792616
Chromosome Location	chr7:124833992-124833993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1086964	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768552	0.83[ASN][1000 genomes]
rs13226465	0.80[ASN][1000 genomes]
rs1427579	0.87[ASN][1000 genomes]
rs1454126	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1728929	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1728930	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17329822	0.80[ASN][1000 genomes]
rs17388970	0.80[ASN][1000 genomes]
rs1902003	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2003139	0.83[ASN][1000 genomes]
rs6957121	0.80[ASN][1000 genomes]
rs6969306	0.83[ASN][1000 genomes]
rs715937	0.89[AFR][1000 genomes]
rs7797428	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7810705	0.81[ASN][1000 genomes]
rs792617	0.89[AFR][1000 genomes]
rs792620	0.87[AFR][1000 genomes]
rs792627	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs792628	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs792637	0.89[AFR][1000 genomes]
rs952001	0.83[ASN][1000 genomes]
rs952002	0.83[ASN][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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1029627	chr7:124810399-124901651	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs792616	RP11-3B12.1	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124832600-124834000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr7:124832600-124834000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:124832600-124834200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:124833000-124834600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:124833000-124836800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:124833200-124834000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:124833800-124834000	Enhancers	Fetal Brain Male	brain

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