Variant report

Variant	rs2635047
Chromosome Location	chr18:44736336-44736337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11663321	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12960378	0.96[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs12960444	0.83[EUR][1000 genomes]
rs12963648	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12964465	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16954921	0.81[GIH][hapmap]
rs16954999	0.81[GIH][hapmap]
rs17785419	0.85[CEU][hapmap]
rs2251948	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2277717	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2461247	0.96[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2571001	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2571009	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2571016	0.96[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2576030	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2576031	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2576053	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2576056	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2576060	0.88[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2635040	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2635041	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2635042	1.00[JPT][hapmap]
rs2635043	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2635045	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2635046	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2635049	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2635050	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2668761	0.81[GIH][hapmap]
rs2668779	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2684818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2684820	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2684822	0.91[ASN][1000 genomes]
rs2684825	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2684826	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2684837	0.87[CEU][hapmap]
rs28693565	0.85[EUR][1000 genomes]
rs28702976	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2932126	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816125	0.96[CEU][hapmap];0.90[GIH][hapmap];0.83[JPT][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs7242978	0.88[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7504798	0.96[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs9304341	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9960264	0.96[CEU][hapmap];0.90[GIH][hapmap];0.83[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Educational attainment	25201988	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2635047	KATNAL2	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44729800-44736600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr18:44735200-44736400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:44735800-44736600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:44736000-44736600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:44736000-44736600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr18:44736200-44736800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr18:44736200-44736800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr18:44736200-44736800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr18:44736200-44736800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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