Variant report

Variant	rs1554933
Chromosome Location	chr21:40742916-40742917
allele	C/G
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:57916013..57918266-chr21:40742464..40744976,2	K562	blood:
2	chr21:40734249..40737056-chr21:40740418..40743217,2	K562	blood:
3	chr21:40741013..40744559-chr21:40749418..40754274,4	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRB-1	chr21:40742507-40742922	XLOC_013943
2	lnc-WRB-1	chr21:40742506-40742922	NONHSAT082181
3	lnc-WRB-1	chr21:40742507-40742960	NONHSAT082182

No data

Variant related genes	Relation type
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1046289	0.88[JPT][hapmap]
rs11911475	0.86[ASN][1000 genomes]
rs12106311	0.81[ASN][1000 genomes]
rs13433458	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1554934	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2239384	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs2244352	0.85[YRI][hapmap]
rs2297255	0.89[JPT][hapmap]
rs2735313	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836936	0.89[JPT][hapmap]
rs2836937	0.89[JPT][hapmap]
rs2836941	0.89[JPT][hapmap]
rs2836946	0.89[JPT][hapmap]
rs2836947	0.89[JPT][hapmap]
rs2836962	0.89[JPT][hapmap]
rs2836963	0.89[JPT][hapmap]
rs2836970	0.89[JPT][hapmap]
rs2836978	0.89[JPT][hapmap]
rs2836979	0.89[JPT][hapmap]
rs2836990	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836992	1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2836994	0.83[CHB][hapmap]
rs2836995	0.87[CEU][hapmap]
rs2836996	0.88[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs2837003	0.96[YRI][hapmap]
rs2837004	0.96[YRI][hapmap]
rs28550626	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28629334	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3761372	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379291	0.89[JPT][hapmap]
rs420888	0.89[JPT][hapmap]
rs446090	0.89[JPT][hapmap]
rs4818027	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs4818030	0.87[ASN][1000 genomes]
rs4818034	0.82[AFR][1000 genomes]
rs59805871	0.88[ASN][1000 genomes]
rs7278048	0.89[JPT][hapmap]
rs7279434	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7281540	0.89[JPT][hapmap]
rs8129850	0.89[JPT][hapmap]
rs8132324	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9305669	0.89[JPT][hapmap]
rs997146	0.89[JPT][hapmap]
rs9974263	0.86[AFR][1000 genomes]
rs9974653	0.89[ASN][1000 genomes]
rs9979691	0.89[JPT][hapmap]
rs9981595	0.89[JPT][hapmap]
rs9983270	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9983368	0.81[ASN][1000 genomes]
rs9983594	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1056452	chr21:40741893-40782587	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs1554933	WRB	cis	parietal	SCAN
rs1554933	RIPK4	cis	parietal	SCAN
rs1554933	WRB	cis	cerebellum	SCAN
rs1554933	WRB	cis	Adipose Subcutaneous	GTEx
rs1554933	HMGN1	cis	multi-tissue	Pritchard
rs1554933	LCA5L	cis	Nerve Tibial	GTEx
rs1554933	HMGN1	cis	lymphoblastoid	seeQTL
rs1554933	WRB	cis	Skin Sun Exposed Lower leg	GTEx
rs1554933	WRB	cis	Artery Tibial	GTEx
rs1554933	WRB	cis	multi-tissue	Pritchard
rs1554933	LOC643790	trans	multi-tissue	Pritchard
rs1554933	WRB	cis	Nerve Tibial	GTEx
rs1554933	WRB	cis	Whole Blood	GTEx
rs1554933	WRB	cis	lung	GTEx
rs1554933	WRB	cis	Thyroid	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40741200-40743600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr21:40741800-40743000	Enhancers	Primary hematopoietic stem cells	blood
3	chr21:40742000-40743000	Enhancers	Placenta	Placenta
4	chr21:40742000-40743000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr21:40742200-40743000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr21:40742200-40743000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:40742400-40743000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:40742400-40743000	Enhancers	Primary B cells from peripheral blood	blood
9	chr21:40742400-40743000	Enhancers	Adipose Nuclei	Adipose
10	chr21:40742400-40743200	Flanking Active TSS	K562	blood
11	chr21:40742600-40743000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr21:40742600-40743000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:40742600-40743000	Enhancers	Duodenum Mucosa	Duodenum
14	chr21:40742600-40743000	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr21:40742600-40743000	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr21:40742600-40743000	Enhancers	Right Ventricle	heart
17	chr21:40742800-40743000	Enhancers	HepG2	liver
18	chr21:40742800-40743200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:40742800-40744000	Weak transcription	Liver	Liver
20	chr21:40742800-40745400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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