Variant report

Variant	rs7533953
Chromosome Location	chr1:57459110-57459111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11206942	0.90[ASN][1000 genomes]
rs11206954	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11206955	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11206958	0.85[ASN][1000 genomes]
rs11206961	0.80[ASN][1000 genomes]
rs11206962	0.81[JPT][hapmap]
rs11589281	0.80[ASN][1000 genomes]
rs11810899	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12035887	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12036280	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12062362	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12082861	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12118564	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12144161	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1329448	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1329451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17114816	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1831871	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1854508	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2026083	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3738558	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3754268	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3768200	0.82[ASN][1000 genomes]
rs3768201	0.85[ASN][1000 genomes]
rs3768202	0.85[ASN][1000 genomes]
rs3768203	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3768204	0.85[ASN][1000 genomes]
rs3768205	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3768206	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs3768209	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3768211	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3820578	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs3820579	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3820581	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4912233	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4912420	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4912422	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4912423	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs6668180	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6668269	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6676740	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6679906	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6681325	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs697580	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs706353	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs706357	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs706360	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs706361	1.00[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs706364	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs72917455	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs835447	0.85[ASN][1000 genomes]
rs944923	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs952703	0.85[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7533953	C8B	cis	Whole Blood	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57454400-57459200	Weak transcription	Liver	Liver
2	chr1:57457400-57462400	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57457800-57480400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:57458400-57460400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:57458400-57466600	Weak transcription	Psoas Muscle	Psoas
6	chr1:57458600-57459600	Weak transcription	Fetal Kidney	kidney
7	chr1:57458800-57459400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:57458800-57459600	Enhancers	Brain Germinal Matrix	brain
9	chr1:57458800-57459600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:57459000-57459200	Enhancers	Aorta	Aorta
11	chr1:57459000-57459400	Enhancers	Ovary	ovary
12	chr1:57459000-57474600	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links