Variant report

Variant	rs28542819
Chromosome Location	chr15:44237743-44237744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44237269..44240458-chr15:44244301..44246946,3	K562	blood:
2	chr15:44237370..44240153-chr15:44241264..44242889,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1008183	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10152658	0.82[EUR][1000 genomes]
rs1077421	0.90[ASN][1000 genomes]
rs11070413	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11070415	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11070416	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11630936	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11631901	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11635039	0.97[EUR][1000 genomes]
rs11637468	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439442	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12440402	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12442168	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16944774	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16945686	0.94[EUR][1000 genomes]
rs16950215	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306674	0.91[EUR][1000 genomes]
rs28377221	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438984	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28599486	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28670868	0.83[EUR][1000 genomes]
rs28685813	0.89[EUR][1000 genomes]
rs28706414	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3742981	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3850777	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55927923	0.94[EUR][1000 genomes]
rs60484809	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7178452	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8031749	0.83[EUR][1000 genomes]
rs9806129	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9920164	0.90[AMR][1000 genomes];0.97[EUR][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	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28542819	ADAL	cis	Nerve Tibial	GTEx
rs28542819	ELL3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44225400-44246200	Weak transcription	Right Atrium	heart
2	chr15:44225600-44246200	Weak transcription	NH-A	brain
3	chr15:44227200-44251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:44227400-44244200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:44229000-44245000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:44234200-44241000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr15:44234800-44237800	Weak transcription	GM12878-XiMat	blood
8	chr15:44234800-44238400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:44235000-44239000	Weak transcription	Brain Angular Gyrus	brain
10	chr15:44235000-44242400	Weak transcription	Brain Substantia Nigra	brain
11	chr15:44235200-44238800	Weak transcription	Brain Hippocampus Middle	brain
12	chr15:44236200-44239800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:44236400-44246200	Weak transcription	NHLF	lung
14	chr15:44236600-44238800	Weak transcription	Brain Anterior Caudate	brain
15	chr15:44236600-44240800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:44236600-44241000	Weak transcription	NHDF-Ad	bronchial
17	chr15:44236800-44240800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:44237000-44237800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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