Variant report

Variant	rs11631687
Chromosome Location	chr15:49676417-49676418
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10083602	0.81[EUR][1000 genomes]
rs10519230	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11070693	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11070694	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11631040	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11636671	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11636795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638378	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12438444	0.81[AMR][1000 genomes]
rs12438856	0.81[EUR][1000 genomes]
rs12439479	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12440323	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12441004	0.80[AMR][1000 genomes]
rs12442143	0.81[EUR][1000 genomes]
rs12900001	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913745	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1429556	0.81[AFR][1000 genomes]
rs16962486	0.86[AFR][1000 genomes]
rs16962490	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16962528	0.81[EUR][1000 genomes]
rs16973952	0.81[EUR][1000 genomes]
rs17401417	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2413942	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2413946	0.81[EUR][1000 genomes]
rs2899433	0.81[EUR][1000 genomes]
rs4614670	0.81[EUR][1000 genomes]
rs58410445	0.81[EUR][1000 genomes]
rs6493364	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6493369	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493371	0.81[EUR][1000 genomes]
rs7166049	0.81[EUR][1000 genomes]
rs7166498	0.81[EUR][1000 genomes]
rs7167041	0.81[EUR][1000 genomes]
rs7170426	0.81[EUR][1000 genomes]
rs8026236	0.81[EUR][1000 genomes]
rs9920772	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9972329	0.81[EUR][1000 genomes]
rs9972429	0.81[EUR][1000 genomes]
rs9972565	0.81[EUR][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
rs11631687	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	chr15:49676200-49676600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr15:49676400-49683600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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