Variant report

Variant	rs706361
Chromosome Location	chr1:57490333-57490334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11206954	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11206955	0.81[CHB][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes]
rs11810899	0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes]
rs12035887	0.81[CHB][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs12036280	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12062362	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes]
rs12082861	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes]
rs12118564	0.82[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes]
rs12144161	0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes]
rs1329448	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs1329451	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17114816	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1831871	0.92[CEU][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes]
rs1854508	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.97[EUR][1000 genomes]
rs2026083	0.87[AMR][1000 genomes]
rs3738558	0.85[AMR][1000 genomes]
rs3754268	0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes]
rs3768203	0.86[JPT][hapmap]
rs3768205	0.85[JPT][hapmap]
rs3768206	0.86[JPT][hapmap]
rs3768209	0.81[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs3768211	0.81[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes]
rs3820578	0.81[JPT][hapmap]
rs3820579	0.85[AMR][1000 genomes]
rs3820581	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4912233	0.86[JPT][hapmap]
rs4912420	0.82[AMR][1000 genomes]
rs4912422	0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes]
rs4912423	0.81[JPT][hapmap]
rs6668180	0.83[EUR][1000 genomes]
rs6668269	0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs6676740	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6679906	0.91[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes]
rs6681325	0.81[JPT][hapmap]
rs697580	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes]
rs706353	0.92[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes]
rs706357	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs706360	0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes]
rs706364	0.86[JPT][hapmap]
rs72917455	0.85[EUR][1000 genomes]
rs7533953	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs944923	0.96[EUR][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	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
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	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
rs706361	C8B	cis	Whole Blood	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57481600-57490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:57483200-57494000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:57483400-57490400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:57483400-57490600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57483600-57490600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:57485200-57494800	Weak transcription	Fetal Brain Female	brain
7	chr1:57485400-57490600	Weak transcription	HepG2	liver
8	chr1:57485400-57498000	Weak transcription	Liver	Liver
9	chr1:57486000-57502600	Weak transcription	Fetal Brain Male	brain
10	chr1:57486800-57490400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:57487800-57498800	Weak transcription	Fetal Intestine Large	intestine
12	chr1:57489600-57490400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:57489600-57491400	Enhancers	Brain Germinal Matrix	brain
14	chr1:57490000-57491200	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:57490000-57491400	Enhancers	Brain Substantia Nigra	brain
16	chr1:57490200-57490400	Enhancers	Brain Hippocampus Middle	brain
17	chr1:57490200-57490400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:57490200-57490800	Enhancers	Fetal Muscle Leg	muscle
19	chr1:57490200-57491400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:57490200-57491600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:57490200-57491600	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:57490200-57493000	Enhancers	Colon Smooth Muscle	Colon

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