Variant report

Variant	rs8113621
Chromosome Location	chr19:42035174-42035175
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	SETDB1	chr19:42034208-42038482	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000268355	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10406371	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10406545	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10406988	0.82[ASN][1000 genomes]
rs10410081	0.84[ASN][1000 genomes]
rs10423808	0.93[ASN][1000 genomes]
rs10424376	0.93[ASN][1000 genomes]
rs11083626	0.92[ASN][1000 genomes]
rs11668699	0.93[ASN][1000 genomes]
rs11669873	0.84[ASN][1000 genomes]
rs12462897	0.94[ASN][1000 genomes]
rs12609438	0.92[ASN][1000 genomes]
rs2286754	0.92[ASN][1000 genomes]
rs2317312	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3826716	0.94[ASN][1000 genomes]
rs4802120	0.93[ASN][1000 genomes]
rs4802122	0.93[ASN][1000 genomes]
rs4803475	0.85[ASN][1000 genomes]
rs4803476	0.85[ASN][1000 genomes]
rs7248492	0.88[EUR][1000 genomes]
rs7252454	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252624	0.92[ASN][1000 genomes]
rs7255742	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7257282	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510767	chr19:41962486-42049165	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv579602	chr19:42015468-42047924	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8113621	CEACAM21	cis	Whole Blood	GTEx
rs8113621	CEACAM21	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42029000-42036200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:42029800-42037600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:42033600-42037600	ZNF genes & repeats	GM12878-XiMat	blood
4	chr19:42033800-42035400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr19:42034000-42036600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:42034000-42037400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr19:42034200-42035200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr19:42034200-42036800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr19:42034200-42036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:42034600-42035200	Enhancers	Primary B cells from peripheral blood	blood
11	chr19:42034600-42035600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:42034800-42035200	Enhancers	Primary B cells from cord blood	blood
13	chr19:42035000-42038400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links