Variant report

Variant	rs1814902
Chromosome Location	chr3:43251754-43251755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10865932	0.88[GIH][hapmap];0.93[TSI][hapmap]
rs11129996	0.92[ASN][1000 genomes]
rs12634274	0.81[GIH][hapmap]
rs12715387	0.94[ASN][1000 genomes]
rs12715388	0.94[ASN][1000 genomes]
rs13059783	0.94[ASN][1000 genomes]
rs13060695	0.94[ASN][1000 genomes]
rs13066699	0.94[ASN][1000 genomes]
rs13074235	0.90[ASN][1000 genomes]
rs13085652	0.94[ASN][1000 genomes]
rs1316296	0.95[EUR][1000 genomes]
rs1316297	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1320156	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1320158	0.94[ASN][1000 genomes]
rs13320571	0.88[GIH][hapmap];0.93[TSI][hapmap]
rs1573931	0.92[ASN][1000 genomes]
rs1588027	0.82[GIH][hapmap]
rs17075317	0.92[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap]
rs17075335	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17075342	0.95[EUR][1000 genomes]
rs17075378	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17075381	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17075398	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17075597	0.88[GIH][hapmap];0.85[TSI][hapmap]
rs2372352	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2372354	0.91[ASN][1000 genomes]
rs2372355	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2372356	0.94[ASN][1000 genomes]
rs2888295	0.94[ASN][1000 genomes]
rs2888296	0.94[ASN][1000 genomes]
rs4016130	0.98[ASN][1000 genomes]
rs4260403	0.92[ASN][1000 genomes]
rs4404425	0.94[ASN][1000 genomes]
rs4419357	0.88[ASN][1000 genomes]
rs4444688	0.94[ASN][1000 genomes]
rs4585168	0.95[EUR][1000 genomes]
rs4637262	0.94[ASN][1000 genomes]
rs4682675	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4682685	0.82[GIH][hapmap]
rs4682872	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4682874	0.88[EUR][1000 genomes]
rs4682875	0.89[EUR][1000 genomes]
rs4682876	0.87[EUR][1000 genomes]
rs4682879	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4683363	1.00[ASN][1000 genomes]
rs4683364	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4683366	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4683367	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4683369	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6442144	0.97[ASN][1000 genomes]
rs6762503	0.95[ASN][1000 genomes]
rs6781696	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6798619	0.89[ASN][1000 genomes]
rs6800983	0.82[GIH][hapmap]
rs6803929	0.88[GIH][hapmap];0.85[TSI][hapmap]
rs6805075	0.94[ASN][1000 genomes]
rs7611123	0.95[EUR][1000 genomes]
rs7621298	0.85[JPT][hapmap]
rs7621511	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7627198	0.94[ASN][1000 genomes]
rs7636673	0.98[ASN][1000 genomes]
rs7639584	0.95[ASN][1000 genomes]
rs7639605	0.98[ASN][1000 genomes]
rs9311334	1.00[ASN][1000 genomes]
rs9311335	0.94[ASN][1000 genomes]
rs9311336	0.94[ASN][1000 genomes]
rs9311339	0.82[GIH][hapmap]
rs9681394	0.85[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs9683242	1.00[CEU][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes]
rs977911	0.82[GIH][hapmap]
rs9809273	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9820946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9822961	0.95[ASN][1000 genomes]
rs9826102	0.94[ASN][1000 genomes]
rs9826849	0.94[ASN][1000 genomes]
rs9827911	0.94[ASN][1000 genomes]
rs9833793	0.98[ASN][1000 genomes]
rs9852399	0.92[ASN][1000 genomes]
rs9853795	1.00[ASN][1000 genomes]
rs9858012	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[ASN][1000 genomes]
rs9860007	0.94[ASN][1000 genomes]
rs9860364	0.95[ASN][1000 genomes]
rs9861337	0.95[ASN][1000 genomes]
rs9861529	0.95[ASN][1000 genomes]
rs9875582	0.85[CHB][hapmap];0.95[CHD][hapmap]

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	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1814902	SLC47A2	trans	brain	seeQTL
rs1814902	TEKT1	trans	brain	seeQTL
rs1814902	CAPSL	trans	brain	seeQTL
rs1814902	C1orf194	trans	brain	seeQTL
rs1814902	CAPS	trans	brain	seeQTL
rs1814902	SPAG6	trans	brain	seeQTL
rs1814902	FANK1	trans	brain	seeQTL
rs1814902	IQCG	trans	brain	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43243600-43252000	Weak transcription	Pancreas	Pancrea
2	chr3:43245000-43258800	Weak transcription	Right Atrium	heart
3	chr3:43247800-43259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:43248200-43253200	Enhancers	Liver	Liver
5	chr3:43248600-43254800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:43249600-43252400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:43249800-43251800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:43249800-43252400	Weak transcription	Fetal Intestine Small	intestine
9	chr3:43249800-43254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:43249800-43254400	Weak transcription	Fetal Intestine Large	intestine
11	chr3:43249800-43256000	Weak transcription	Fetal Kidney	kidney
12	chr3:43250000-43254200	Weak transcription	NHEK	skin
13	chr3:43251000-43251800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:43251000-43253600	Enhancers	Left Ventricle	heart
15	chr3:43251000-43255200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:43251200-43252000	Enhancers	Lung	lung
17	chr3:43251400-43252400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:43251600-43252400	Enhancers	Fetal Heart	heart

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