Variant report

Variant	rs527231
Chromosome Location	chr7:78493737-78493738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1207820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1330497	0.92[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap]
rs1330498	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1642897	0.92[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap]
rs17454991	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1799011	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs1799013	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs1799014	0.92[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap]
rs1799015	0.92[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap]
rs2065198	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs472023	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs4730552	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs474780	0.98[ASN][1000 genomes]
rs484767	0.81[MKK][hapmap];0.83[TSI][hapmap]
rs488478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491394	0.89[ASN][1000 genomes]
rs492944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5000370	0.81[MKK][hapmap];0.83[TSI][hapmap]
rs504216	0.85[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap]
rs508142	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs508789	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs508841	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs511615	0.83[TSI][hapmap]
rs514025	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs514951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516085	0.89[ASN][1000 genomes]
rs522601	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs529602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs535355	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs535451	0.89[ASN][1000 genomes]
rs541737	0.86[ASN][1000 genomes]
rs546953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs550607	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs552822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs563887	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs564808	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs571376	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];0.89[ASN][1000 genomes]
rs571502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs573635	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs576744	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs578047	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs578326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62467691	0.85[ASN][1000 genomes]
rs6950191	0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7794352	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs961928	0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs9641491	0.92[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs969699	0.92[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949647	chr7:78406281-78495913	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs527231	SRRM3	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78491000-78494000	Enhancers	Fetal Lung	lung
2	chr7:78492200-78494200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:78492400-78493800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:78492600-78493800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:78492600-78493800	Enhancers	Fetal Brain Female	brain
6	chr7:78493000-78494000	Weak transcription	Fetal Intestine Large	intestine
7	chr7:78493000-78494000	Weak transcription	Left Ventricle	heart
8	chr7:78493000-78502600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:78493200-78494000	Enhancers	Brain Germinal Matrix	brain
10	chr7:78493400-78493800	Flanking Active TSS	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links