Variant report

Variant	rs7258053
Chromosome Location	chr19:42304362-42304363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10401370	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10401528	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10401928	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10407206	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10407619	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10407797	0.83[EUR][1000 genomes]
rs10408367	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10410918	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10414823	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10416824	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10418100	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10419111	0.83[EUR][1000 genomes]
rs10419827	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10426049	0.83[AMR][1000 genomes]
rs10426243	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12979253	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1811564	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1870093	0.83[EUR][1000 genomes]
rs2008798	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2008808	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2199829	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2199830	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28821622	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28824227	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34819714	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3795022	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4480913	0.86[EUR][1000 genomes]
rs6508998	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6508999	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6509000	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7251154	0.90[EUR][1000 genomes]
rs7251336	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7251783	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7251799	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7251960	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs734107	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs734109	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8099934	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8100182	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8106505	0.85[EUR][1000 genomes]
rs8110199	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8113283	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8113538	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8113641	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8113720	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8113741	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8113813	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs899662	0.86[AMR][1000 genomes];0.87[EUR][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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7258053	RABAC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42290200-42305200	Weak transcription	Fetal Thymus	thymus
2	chr19:42298800-42307400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr19:42299000-42305000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:42299000-42305200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr19:42300800-42305000	Active TSS	Primary B cells from cord blood	blood
6	chr19:42300800-42305200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:42301600-42305000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr19:42301600-42306600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:42303000-42307000	Enhancers	Esophagus	oesophagus
10	chr19:42303400-42306000	Weak transcription	GM12878-XiMat	blood
11	chr19:42303600-42304800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr19:42303800-42305200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:42303800-42305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:42304000-42305000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr19:42304200-42304600	Weak transcription	Monocytes-CD14+_RO01746	blood

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