Variant report

Variant	rs422264
Chromosome Location	chr1:165499520-165499521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10918204	0.85[ASN][1000 genomes]
rs11810716	0.85[ASN][1000 genomes]
rs12059369	0.85[ASN][1000 genomes]
rs12069141	0.85[ASN][1000 genomes]
rs12069997	0.85[ASN][1000 genomes]
rs12071681	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12084147	0.85[ASN][1000 genomes]
rs12087952	0.88[CHD][hapmap];0.82[MEX][hapmap]
rs12092613	0.85[ASN][1000 genomes]
rs12095088	0.85[ASN][1000 genomes]
rs12738175	0.88[ASN][1000 genomes]
rs169556	0.91[ASN][1000 genomes]
rs176230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1913840	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2162143	0.86[ASN][1000 genomes]
rs2433136	0.91[ASN][1000 genomes]
rs2478257	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2478258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2485403	0.94[ASN][1000 genomes]
rs2766082	0.91[ASN][1000 genomes]
rs285461	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs285463	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs285469	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs285470	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34505661	0.85[ASN][1000 genomes]
rs41267562	0.94[ASN][1000 genomes]
rs41302541	0.85[ASN][1000 genomes]
rs56767425	0.85[ASN][1000 genomes]
rs57348245	0.85[ASN][1000 genomes]
rs59800771	0.85[ASN][1000 genomes]
rs6676649	0.88[ASN][1000 genomes]
rs7512593	0.86[ASN][1000 genomes]
rs7512674	0.88[ASN][1000 genomes]
rs7522076	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[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	esv3434870	chr1:165497978-165500276	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3436695	chr1:165498478-165499776	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs422264	ILDR2	cis	parietal	SCAN
rs422264	MGST3	cis	parietal	SCAN
rs422264	USF1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165497000-165501400	Weak transcription	Left Ventricle	heart
2	chr1:165497200-165501400	Weak transcription	Right Ventricle	heart
3	chr1:165499200-165501800	Enhancers	Fetal Heart	heart
4	chr1:165499400-165499600	Enhancers	Fetal Muscle Leg	muscle
5	chr1:165499400-165499600	Enhancers	Right Atrium	heart
6	chr1:165499400-165499800	Enhancers	Psoas Muscle	Psoas
7	chr1:165499400-165502800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:165499400-165504200	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links