Variant report

Variant	rs28841118
Chromosome Location	chr16:30630226-30630227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr16:30630091-30630650	K562	blood:	n/a	n/a
2	CBX3	chr16:30630098-30630505	K562	blood:	n/a	n/a
3	POLR2A	chr16:30628686-30630848	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30620286..30623120-chr16:30629195..30632529,3	MCF-7	breast:
2	chr16:30620356..30623131-chr16:30629382..30632115,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260678	TF binding region
ENSG00000156853	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12918327	0.98[ASN][1000 genomes]
rs28728333	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34699226	0.91[ASN][1000 genomes]
rs35661204	0.85[ASN][1000 genomes]
rs36064568	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4485386	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55875685	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6565195	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565196	0.85[EUR][1000 genomes]
rs67693285	1.00[ASN][1000 genomes]
rs7184055	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7185620	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186852	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187071	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187802	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7188789	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7191389	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7191761	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194347	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197475	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204632	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7499339	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9925025	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9927137	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28841118	KAT8	cis	Artery Tibial	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30622200-30630400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:30622200-30630400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:30622200-30630400	Weak transcription	Fetal Intestine Large	intestine
4	chr16:30622200-30630600	Weak transcription	HSMMtube	muscle
5	chr16:30622400-30631200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:30622600-30630400	Weak transcription	Brain Substantia Nigra	brain
7	chr16:30627000-30631800	Weak transcription	Gastric	stomach
8	chr16:30627000-30632000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:30629200-30631000	Enhancers	Brain Hippocampus Middle	brain
10	chr16:30629400-30630600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:30629600-30630800	Enhancers	Brain Angular Gyrus	brain
12	chr16:30629600-30630800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr16:30629600-30631400	Enhancers	Fetal Brain Male	brain
14	chr16:30629600-30631800	Enhancers	HepG2	liver
15	chr16:30630000-30631600	Enhancers	Fetal Kidney	kidney
16	chr16:30630200-30630800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr16:30630200-30630800	Enhancers	Brain Cingulate Gyrus	brain
18	chr16:30630200-30631200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:30630200-30631600	Enhancers	Fetal Intestine Small	intestine
20	chr16:30630200-30632200	Enhancers	Fetal Brain Female	brain

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