Variant report

Variant	rs10911530
Chromosome Location	chr1:184195075-184195076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10047173	0.88[ASN][1000 genomes]
rs1006198	0.91[ASN][1000 genomes]
rs10797946	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10797947	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911524	0.84[ASN][1000 genomes]
rs10911526	0.84[ASN][1000 genomes]
rs10911527	0.84[ASN][1000 genomes]
rs10911531	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911532	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911540	0.80[EUR][1000 genomes]
rs10911555	0.95[CHB][hapmap]
rs11585071	0.86[CHB][hapmap]
rs11806061	0.85[ASN][1000 genomes]
rs12120085	0.82[ASN][1000 genomes]
rs12128572	0.84[ASN][1000 genomes]
rs12136077	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12139463	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139516	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1327139	0.97[ASN][1000 genomes]
rs1327147	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1359760	0.84[ASN][1000 genomes]
rs1409809	0.97[ASN][1000 genomes]
rs1571972	0.83[ASN][1000 genomes]
rs1831055	0.97[ASN][1000 genomes]
rs1831056	0.97[ASN][1000 genomes]
rs1854086	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1863155	0.84[ASN][1000 genomes]
rs1863156	0.84[ASN][1000 genomes]
rs1863157	0.84[ASN][1000 genomes]
rs1889025	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1889026	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2019376	0.87[ASN][1000 genomes]
rs2081401	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2081402	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2081403	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2151172	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2161988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2194698	0.84[ASN][1000 genomes]
rs2216932	0.84[ASN][1000 genomes]
rs2378824	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2378825	0.97[ASN][1000 genomes]
rs2378841	0.83[ASN][1000 genomes]
rs2840274	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3954285	0.84[ASN][1000 genomes]
rs4292918	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4342818	0.88[ASN][1000 genomes]
rs4428848	0.95[CHB][hapmap]
rs4650663	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4650664	0.83[ASN][1000 genomes]
rs4651182	0.84[ASN][1000 genomes]
rs4651186	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651189	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651190	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651191	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4651192	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4651193	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4651195	0.83[ASN][1000 genomes]
rs4651197	0.83[ASN][1000 genomes]
rs4651200	0.95[CHB][hapmap]
rs4990766	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56308906	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6424933	0.93[ASN][1000 genomes]
rs6424934	0.94[ASN][1000 genomes]
rs6424937	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6424939	0.85[ASN][1000 genomes]
rs6424940	0.83[ASN][1000 genomes]
rs6667352	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6676366	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6678460	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6689088	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs714625	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7530243	0.86[CHB][hapmap]
rs7549600	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs929941	0.84[ASN][1000 genomes]
rs932993	0.91[CHB][hapmap]
rs963234	0.95[CHB][hapmap]
rs9787399	0.95[CHB][hapmap]
rs9803635	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9803849	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9803931	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9804048	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs993065	0.84[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10911530	RGL1	cis	parietal	SCAN
rs10911530	NMNAT2	cis	cerebellum	SCAN
rs10911530	RALGPS2	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184182400-184195400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:184192600-184197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184194000-184195600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:184194400-184195600	Enhancers	Fetal Brain Male	brain
5	chr1:184194800-184195600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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