Variant report

Variant	rs8034747
Chromosome Location	chr15:49676712-49676713
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10467992	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10851475	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs10851476	0.90[JPT][hapmap]
rs11070687	0.90[JPT][hapmap]
rs11070692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11636795	0.84[YRI][hapmap]
rs11854667	0.90[JPT][hapmap]
rs11858114	0.92[CEU][hapmap]
rs12439429	0.86[CHB][hapmap]
rs12909779	0.90[JPT][hapmap]
rs12913745	0.87[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs12916840	0.90[JPT][hapmap]
rs1429556	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16962440	0.85[CHB][hapmap]
rs16962486	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1816293	0.90[JPT][hapmap]
rs1904316	0.85[CHB][hapmap]
rs2086256	0.92[CEU][hapmap]
rs2127241	0.91[CEU][hapmap]
rs2127242	0.92[CEU][hapmap]
rs2163095	0.90[JPT][hapmap]
rs2163096	0.90[JPT][hapmap]
rs2219812	0.92[CEU][hapmap]
rs2580926	0.92[CEU][hapmap]
rs2663088	0.92[CEU][hapmap]
rs2899430	0.92[CEU][hapmap]
rs3098620	0.92[CEU][hapmap]
rs4316697	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4421927	0.90[JPT][hapmap]
rs6493361	0.88[CEU][hapmap]
rs6493363	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7162360	0.90[JPT][hapmap]
rs7168201	0.81[JPT][hapmap]
rs7179237	0.85[JPT][hapmap]
rs735495	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs754165	0.92[CEU][hapmap]
rs754166	0.92[CEU][hapmap]
rs8024102	0.90[JPT][hapmap]
rs8025952	0.92[CEU][hapmap]
rs8031892	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8034661	0.84[ASN][1000 genomes]
rs8040075	0.92[CEU][hapmap]
rs919447	0.90[JPT][hapmap]
rs981612	0.90[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	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
rs8034747	GALK2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49673800-49683400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:49674400-49677400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr15:49675400-49676800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr15:49675400-49676800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:49675400-49676800	Enhancers	NHLF	lung
6	chr15:49676000-49676800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr15:49676000-49676800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:49676000-49676800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr15:49676400-49683600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:49676600-49683400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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