Variant report

Variant	rs7554045
Chromosome Location	chr1:223687990-223687991
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223686710..223689558-chr1:223691137..223693488,3	K562	blood:
2	chr1:223678801..223680634-chr1:223687720..223690003,2	K562	blood:
3	chr1:223686010..223688947-chr1:223690365..223692889,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10907384	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12046541	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12063062	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3922892	0.89[ASN][1000 genomes]
rs3935462	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4456085	0.89[ASN][1000 genomes]
rs4559495	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4603130	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4661271	0.95[ASN][1000 genomes]
rs4661273	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4661278	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61823509	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61823516	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6682926	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6685694	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520420	chr1:223682051-223693162	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7554045	WDR26	cis	parietal	SCAN
rs7554045	BPNT1	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223684800-223689000	Weak transcription	Right Atrium	heart
2	chr1:223685200-223689000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:223685800-223689000	Weak transcription	HMEC	breast
4	chr1:223685800-223690400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:223685800-223690600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:223686000-223689200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:223686200-223691200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:223686600-223690400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:223686800-223688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:223686800-223690400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:223686800-223690400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:223686800-223691200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:223687000-223690200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:223687000-223690400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:223687200-223688200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:223687400-223689600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr1:223687400-223690000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:223687600-223689400	Bivalent Enhancer	Dnd41	blood
19	chr1:223687600-223690200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:223687800-223688000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:223687800-223688800	Enhancers	Fetal Thymus	thymus
22	chr1:223687800-223689200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr1:223687800-223689400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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