Variant report

Variant	rs2687630
Chromosome Location	chr2:114565419-114565420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114564116..114565859-chr2:114571002..114572521,2	MCF-7	breast:
2	chr2:114514285..114516441-chr2:114562889..114565875,2	MCF-7	breast:
3	chr2:114564981..114567201-chr2:114572058..114575251,3	K562	blood:
4	chr2:114564981..114567201-chr2:114572058..114574843,2	K562	blood:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10167730	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10177576	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10179657	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10209330	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs10496453	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123207	0.83[ASN][1000 genomes]
rs11686297	0.84[ASN][1000 genomes]
rs11694130	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs12613159	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12711788	0.81[ASN][1000 genomes]
rs17040397	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2122097	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2442136	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2595140	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2595152	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2687624	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2687626	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2687627	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2687628	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28451366	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34332133	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35734534	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4848349	0.83[ASN][1000 genomes]
rs4848350	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4849275	0.84[ASN][1000 genomes]
rs4849277	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4849278	0.80[ASN][1000 genomes]
rs4849279	0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6711542	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7600228	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2687630	DDX11L2	cis	Whole Blood	GTEx
rs2687630	RPL23AP7	cis	Whole Blood	GTEx
rs2687630	RPL23AP7	cis	lung	GTEx
rs2687630	RPL23AP7	cis	Artery Tibial	GTEx
rs2687630	RPL23AP7	cis	Artery Aorta	GTEx
rs2687630	RPL23AP7	cis	Muscle Skeletal	GTEx
rs2687630	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114563200-114565800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:114564200-114566400	Weak transcription	K562	blood
3	chr2:114564800-114567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:114565000-114569800	Weak transcription	A549	lung
5	chr2:114565400-114565600	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links