Variant report

Variant	rs2418223
Chromosome Location	chr12:11098139-11098140
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1013312	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10732561	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10734843	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10743929	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10743930	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10743936	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10772371	0.93[EUR][1000 genomes]
rs10772391	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10772392	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10772395	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10772398	0.96[EUR][1000 genomes]
rs10845224	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11054053	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11054054	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12371547	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1376249	0.94[EUR][1000 genomes]
rs1463237	0.94[EUR][1000 genomes]
rs1520225	0.93[EUR][1000 genomes]
rs1607694	0.93[EUR][1000 genomes]
rs16925194	0.88[EUR][1000 genomes]
rs2052180	0.87[AMR][1000 genomes]
rs2110097	0.95[EUR][1000 genomes]
rs2110098	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2215716	0.87[EUR][1000 genomes]
rs2298867	0.89[ASN][1000 genomes]
rs2418214	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2418215	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2418218	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2900552	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2900577	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3741843	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4281556	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4288845	0.95[EUR][1000 genomes]
rs4388985	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4763217	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4763598	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55748583	0.94[EUR][1000 genomes]
rs55834906	0.88[EUR][1000 genomes]
rs55862154	0.94[EUR][1000 genomes]
rs58836988	0.86[ASN][1000 genomes]
rs6488331	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6488333	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66679979	0.94[EUR][1000 genomes]
rs67458095	0.92[EUR][1000 genomes]
rs7297167	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73045955	0.94[EUR][1000 genomes]
rs73051630	0.94[EUR][1000 genomes]
rs73052447	0.88[EUR][1000 genomes]
rs73052449	0.88[EUR][1000 genomes]
rs73052454	0.88[EUR][1000 genomes]
rs73053768	0.92[EUR][1000 genomes]
rs73053785	0.90[EUR][1000 genomes]
rs73054354	0.90[EUR][1000 genomes]
rs73054361	0.88[EUR][1000 genomes]
rs73054364	0.89[EUR][1000 genomes]
rs7306087	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7315843	0.94[EUR][1000 genomes]
rs7486983	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978300	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription 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	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv898777	chr12:11045512-11129433	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2418223	TAS2R45	N/A	lymphoblastoid	RTeQTL
rs2418223	PRR4	cis	Esophagus Muscularis	GTEx
rs2418223	TAS2R48	Cis_1M	lymphoblastoid	RTeQTL
rs2418223	TAS2R20	cis	Skin Sun Exposed Lower leg	GTEx
rs2418223	TAS2R15	cis	Muscle Skeletal	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11033800-11101600	Weak transcription	Ovary	ovary
2	chr12:11080000-11101600	Weak transcription	Left Ventricle	heart
3	chr12:11082000-11101000	Weak transcription	Primary T cells from cord blood	blood
4	chr12:11095200-11101600	Weak transcription	Esophagus	oesophagus
5	chr12:11095200-11148800	Weak transcription	HepG2	liver
6	chr12:11095600-11099600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:11095600-11114000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:11095600-11121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:11095800-11101600	Weak transcription	HMEC	breast
10	chr12:11096000-11113600	Weak transcription	Hela-S3	cervix
11	chr12:11097200-11101600	Weak transcription	Pancreas	Pancrea
12	chr12:11097400-11100600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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