Variant report

Variant	rs8107533
Chromosome Location	chr19:51893355-51893356
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51859965..51862618-chr19:51891276..51893885,2	K562	blood:
2	chr19:51841717..51843747-chr19:51891710..51894546,2	K562	blood:
3	chr19:51840838..51845657-chr19:51892354..51900411,18	K562	blood:
4	chr19:51889722..51893942-chr19:51894149..51900029,8	K562	blood:
5	chr19:51867772..51875803-chr19:51892381..51899756,21	K562	blood:
6	chr19:51889349..51894566-chr19:51895156..51899826,6	K562	blood:
7	chr19:51864453..51872845-chr19:51892428..51902096,29	K562	blood:

Variant related genes	Relation type
ENSG00000105379	Chromatin interaction
ENSG00000267905	Chromatin interaction
ENSG00000268889	Chromatin interaction
ENSG00000105374	Chromatin interaction
ENSG00000186806	Chromatin interaction
ENSG00000268520	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000269403	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10403762	0.81[ASN][1000 genomes]
rs10404198	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10419880	0.95[ASN][1000 genomes]
rs11084075	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11084076	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11084077	0.98[ASN][1000 genomes]
rs11669975	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11670065	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11673263	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2411321	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2411322	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2547308	0.96[ASN][1000 genomes]
rs2547309	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2741240	0.92[ASN][1000 genomes]
rs2741241	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3810093	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3810094	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810095	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810096	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810097	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826657	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826658	0.97[ASN][1000 genomes]
rs3826659	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3826660	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826662	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3826663	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826664	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826665	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4377257	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4441376	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250926	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7251238	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7251286	0.82[EUR][1000 genomes]
rs7251311	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7251566	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7257275	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7508570	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8100861	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8104425	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8111906	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8107533	CTD-2616J11.4	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51872000-51897000	Weak transcription	Right Atrium	heart
2	chr19:51887800-51893400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:51889200-51893600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:51889200-51893800	Weak transcription	GM12878-XiMat	blood
5	chr19:51889200-51897000	Weak transcription	Spleen	Spleen
6	chr19:51891000-51894400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:51891000-51897000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:51891200-51894200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:51891600-51897000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:51891800-51894000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:51891800-51897000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:51891800-51897000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:51891800-51897000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:51892000-51893400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:51892400-51894200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:51892400-51894200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:51892600-51893600	Flanking Active TSS	Fetal Intestine Large	intestine
18	chr19:51892600-51893600	Enhancers	Fetal Thymus	thymus
19	chr19:51892600-51894800	Active TSS	Fetal Intestine Small	intestine
20	chr19:51892600-51897000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:51893000-51893600	Enhancers	K562	blood
22	chr19:51893000-51894800	Enhancers	HepG2	liver
23	chr19:51893200-51893400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr19:51893200-51893600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links