Variant report

Variant	rs9788008
Chromosome Location	chr12:22143530-22143531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22135316..22137044-chr12:22142797..22145609,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10770879	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11046278	1.00[AMR][1000 genomes]
rs11046283	1.00[AMR][1000 genomes]
rs11046284	1.00[AMR][1000 genomes]
rs11046285	1.00[AMR][1000 genomes]
rs11046286	1.00[AMR][1000 genomes]
rs11046287	1.00[AMR][1000 genomes]
rs11046288	1.00[AMR][1000 genomes]
rs12296561	1.00[AMR][1000 genomes]
rs12297555	1.00[AMR][1000 genomes]
rs12302161	1.00[AMR][1000 genomes]
rs12302990	1.00[AMR][1000 genomes]
rs12306240	1.00[AMR][1000 genomes]
rs12307136	1.00[AMR][1000 genomes]
rs12309596	1.00[AMR][1000 genomes]
rs12315697	1.00[AMR][1000 genomes]
rs12318153	1.00[AMR][1000 genomes]
rs1861713	1.00[AMR][1000 genomes]
rs4237917	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4326848	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7314865	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7961937	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7973525	1.00[AMR][1000 genomes]
rs7977201	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv639	chr12:22110979-22153478	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22139800-22145800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:22140000-22145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:22141000-22145600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:22141000-22146000	Weak transcription	Fetal Kidney	kidney
5	chr12:22141200-22145200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:22142600-22145400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:22143000-22144200	Weak transcription	Fetal Intestine Large	intestine

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