Variant report

Variant	rs60082376
Chromosome Location	chr19:38843512-38843513
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	CTCF	chr19:38843440-38843590	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38826223..38828930-chr19:38842574..38845020,2	MCF-7	breast:
2	chr19:38839437..38845026-chr19:38862738..38867726,6	MCF-7	breast:
3	chr19:38836592..38840441-chr19:38840696..38845039,4	K562	blood:

Variant related genes	Relation type
ENSG00000238838	TF binding region
ENSG00000099341	Chromatin interaction
ENSG00000238838	Chromatin interaction
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11666449	0.94[EUR][1000 genomes]
rs11668651	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11669131	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11669230	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11671779	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11672219	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11672531	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11672793	0.82[AMR][1000 genomes]
rs11673012	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11673203	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11673222	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2286473	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2302182	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302183	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2304177	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2368484	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2887262	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34989303	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35308902	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3745951	0.88[ASN][1000 genomes]
rs3745952	0.93[ASN][1000 genomes]
rs4386247	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs45437199	0.89[ASN][1000 genomes]
rs4801723	0.88[EUR][1000 genomes]
rs4802326	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4802327	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4804016	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4804046	0.93[AMR][1000 genomes]
rs57681346	0.91[EUR][1000 genomes]
rs60487067	0.92[EUR][1000 genomes]
rs61091932	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7256575	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73041302	0.93[ASN][1000 genomes]
rs8101488	0.83[AMR][1000 genomes]
rs8106900	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs931749	0.93[ASN][1000 genomes]
rs931750	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60082376	C19orf33	cis	Heart Left Ventricle	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38828200-38844800	Weak transcription	Brain Substantia Nigra	brain
2	chr19:38828200-38852000	Weak transcription	Right Atrium	heart
3	chr19:38830200-38844800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:38834200-38845000	Weak transcription	Spleen	Spleen
5	chr19:38835200-38847000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:38835200-38852000	Weak transcription	Pancreas	Pancrea
7	chr19:38836800-38845000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:38837800-38843800	Weak transcription	Fetal Brain Female	brain
9	chr19:38842600-38843600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr19:38843000-38850400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:38843200-38843800	Enhancers	Fetal Brain Male	brain
12	chr19:38843400-38844800	Weak transcription	Fetal Muscle Leg	muscle
13	chr19:38843400-38845000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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