Variant report

Variant	rs1904314
Chromosome Location	chr15:49670679-49670680
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10467992	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10467993	0.94[ASN][1000 genomes]
rs10851475	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11070687	0.93[ASN][1000 genomes]
rs11854667	0.93[ASN][1000 genomes]
rs12902497	0.95[ASN][1000 genomes]
rs12903238	0.95[ASN][1000 genomes]
rs12903904	0.95[ASN][1000 genomes]
rs12909779	0.93[ASN][1000 genomes]
rs12916840	0.97[ASN][1000 genomes]
rs1594188	0.98[ASN][1000 genomes]
rs1812926	0.85[EUR][1000 genomes]
rs1816293	0.93[ASN][1000 genomes]
rs1904313	0.98[ASN][1000 genomes]
rs2043036	0.95[ASN][1000 genomes]
rs2086256	0.82[EUR][1000 genomes]
rs2099141	0.97[ASN][1000 genomes]
rs2127241	0.84[EUR][1000 genomes]
rs2127242	0.84[EUR][1000 genomes]
rs2163095	0.93[ASN][1000 genomes]
rs2163096	0.93[ASN][1000 genomes]
rs2169932	0.83[EUR][1000 genomes]
rs2219812	0.85[EUR][1000 genomes]
rs28374976	0.97[ASN][1000 genomes]
rs28687437	0.97[ASN][1000 genomes]
rs4421927	0.93[ASN][1000 genomes]
rs4508377	0.93[ASN][1000 genomes]
rs4775805	0.83[EUR][1000 genomes]
rs4775807	0.85[EUR][1000 genomes]
rs4775809	0.96[EUR][1000 genomes]
rs4775810	0.98[ASN][1000 genomes]
rs6493361	0.85[EUR][1000 genomes]
rs6493362	0.93[ASN][1000 genomes]
rs6493363	0.87[EUR][1000 genomes]
rs7162360	0.93[ASN][1000 genomes]
rs7167555	0.82[EUR][1000 genomes]
rs7168201	0.84[ASN][1000 genomes]
rs7173761	0.91[ASN][1000 genomes]
rs7176455	0.84[EUR][1000 genomes]
rs7179237	0.94[ASN][1000 genomes]
rs735495	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs754165	0.85[EUR][1000 genomes]
rs754166	0.85[EUR][1000 genomes]
rs8024102	0.93[ASN][1000 genomes]
rs8025237	0.95[ASN][1000 genomes]
rs8025952	0.84[EUR][1000 genomes]
rs8034112	0.95[ASN][1000 genomes]
rs8034661	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8034956	0.94[ASN][1000 genomes]
rs8035266	0.93[ASN][1000 genomes]
rs8039920	0.93[ASN][1000 genomes]
rs8040075	0.86[EUR][1000 genomes]
rs8041461	0.93[ASN][1000 genomes]
rs919447	0.86[ASN][1000 genomes]
rs9806208	0.85[ASN][1000 genomes]
rs9806748	0.83[EUR][1000 genomes]
rs981612	0.97[ASN][1000 genomes]

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	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv442375	chr15:49652524-49684082	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1904314	GALK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49665000-49673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:49665200-49672200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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