Variant report

Variant	rs10911548
Chromosome Location	chr1:184231056-184231057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10047215	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737250	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797943	0.85[ASN][1000 genomes]
rs10797951	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797952	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797953	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911545	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911546	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911547	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911549	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911550	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911551	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911553	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911554	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911555	0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap]
rs11576933	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11579542	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11585071	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap]
rs11802851	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12021761	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12028040	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046452	0.86[ASN][1000 genomes]
rs12124041	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128341	0.81[ASN][1000 genomes]
rs16822656	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16822659	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1930285	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1930290	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4428848	0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap]
rs4651184	0.81[ASN][1000 genomes]
rs4651185	0.81[ASN][1000 genomes]
rs4651200	0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap]
rs57882451	0.81[ASN][1000 genomes]
rs6424941	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6424942	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6424943	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661497	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6666447	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66781583	0.81[ASN][1000 genomes]
rs6678439	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684045	0.81[ASN][1000 genomes]
rs6684740	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6691210	0.81[ASN][1000 genomes]
rs6693421	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6696916	0.86[ASN][1000 genomes]
rs6697326	0.81[EUR][1000 genomes]
rs6697577	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72735619	0.81[ASN][1000 genomes]
rs72735632	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7355183	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7517993	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7525134	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7530243	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7536226	1.00[YRI][hapmap]
rs7543622	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs932993	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs957558	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs963234	0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap]
rs9787399	0.84[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap]
rs997343	0.81[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
rs10911548	IVNS1ABP	cis	cerebellum	SCAN
rs10911548	GLT25D2	cis	cerebellum	SCAN
rs10911548	STX6	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184224400-184233000	Weak transcription	Fetal Heart	heart
2	chr1:184225800-184233200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:184227800-184239800	Weak transcription	Psoas Muscle	Psoas
4	chr1:184230600-184241600	Weak transcription	NHLF	lung
5	chr1:184230800-184231400	Enhancers	Fetal Intestine Large	intestine
6	chr1:184231000-184231400	Enhancers	Fetal Intestine Small	intestine

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