Variant report

Variant	rs8110371
Chromosome Location	chr19:18667272-18667273
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18666281..18667937-chr19:18697239..18698916,2	K562	blood:
2	chr19:18667076..18669031-chr19:18699935..18702117,2	K562	blood:
3	chr19:18630485..18634839-chr19:18666846..18671916,7	MCF-7	breast:
4	chr19:18652388..18655450-chr19:18667016..18670630,4	K562	blood:
5	chr19:18666812..18670172-chr19:18680715..18684041,6	MCF-7	breast:
6	chr19:18653032..18656930-chr19:18667045..18670995,8	MCF-7	breast:
7	chr19:18662721..18665534-chr19:18665875..18667886,2	MCF-7	breast:
8	chr19:18667097..18671007-chr19:18677068..18684435,17	K562	blood:
9	chr19:18666965..18674770-chr19:18676405..18685095,25	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006015	Chromatin interaction
ENSG00000268983	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000105701	Chromatin interaction
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10402321	0.89[ASN][1000 genomes]
rs10414427	0.81[ASN][1000 genomes]
rs10425018	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11086114	0.86[ASN][1000 genomes]
rs11086116	0.94[ASN][1000 genomes]
rs11672297	0.87[ASN][1000 genomes]
rs12609505	0.83[ASN][1000 genomes]
rs2058077	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2283616	0.86[EUR][1000 genomes]
rs2314664	0.85[EUR][1000 genomes]
rs2314666	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2314667	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28451415	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28711754	0.83[ASN][1000 genomes]
rs28884574	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35867875	0.80[ASN][1000 genomes]
rs35875334	0.81[ASN][1000 genomes]
rs36050418	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3761034	0.81[ASN][1000 genomes]
rs3761036	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3803917	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4808821	0.83[ASN][1000 genomes]
rs55724121	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55888366	0.82[ASN][1000 genomes]
rs58782998	0.84[ASN][1000 genomes]
rs59798925	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62137086	0.81[ASN][1000 genomes]
rs6554	0.86[EUR][1000 genomes]
rs7247557	0.84[ASN][1000 genomes]
rs7253088	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8110374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1055794	chr19:18611545-18676933	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv911284	chr19:18643036-18684216	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv911285	chr19:18646932-18667472	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8110371	UBA52	cis	Nerve Tibial	GTEx
rs8110371	UBA52	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18655600-18667600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:18662800-18668000	Weak transcription	K562	blood
3	chr19:18663200-18668400	Weak transcription	Esophagus	oesophagus
4	chr19:18663400-18667400	Weak transcription	Placenta	Placenta
5	chr19:18665200-18667400	Weak transcription	HepG2	liver

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