Variant report

Variant	rs17633527
Chromosome Location	chr2:114530525-114530526
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10514810	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs11674510	0.80[ASN][1000 genomes]
rs11676758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11677881	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11679736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11685171	0.80[ASN][1000 genomes]
rs11687572	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11694541	1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[ASN][1000 genomes]
rs17632073	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs17683666	0.97[ASN][1000 genomes]
rs17684620	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2166965	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2290107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3748907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs41377545	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849271	0.89[ASN][1000 genomes]
rs58351064	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6708711	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6709158	0.82[CHB][hapmap]
rs6725990	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6726001	0.82[CHB][hapmap]
rs6732182	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73955055	0.93[ASN][1000 genomes]
rs73955056	0.93[ASN][1000 genomes]
rs73955057	0.93[ASN][1000 genomes]
rs73955059	0.97[ASN][1000 genomes]
rs73955070	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7581858	0.97[ASN][1000 genomes]
rs7599741	0.80[ASN][1000 genomes]
rs7599832	0.80[ASN][1000 genomes]
rs9753198	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv3521146	chr2:114525732-114532730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3521145	chr2:114526082-114532730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3521150	chr2:114526469-114532141	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3459738	chr2:114526683-114531812	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3521147	chr2:114526695-114531786	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3521149	chr2:114526701-114531806	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3459739	chr2:114526728-114531791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3521144	chr2:114526738-114531733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3521143	chr2:114526763-114531745	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3521148	chr2:114526814-114531704	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv498931	chr2:114526817-114531702	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3459740	chr2:114526818-114531702	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3521151	chr2:114526818-114531702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv14064	chr2:114527121-114531330	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs17633527	DDX11L2	cis	Whole Blood	GTEx
rs17633527	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs17633527	RPL23AP7	Cis_1M	lymphoblastoid	RTeQTL
rs17633527	RPL23AP7	cis	Whole Blood	GTEx
rs17633527	MGC70863	trans	multi-tissue	Pritchard
rs17633527	MERTK	cis	parietal	SCAN
rs17633527	RPL23AP7	cis	multi-tissue	Pritchard
rs17633527	MGC13005	trans	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114529800-114534600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links