Variant report

Variant	rs4652193
Chromosome Location	chr1:174113692-174113693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10798307	0.84[EUR][1000 genomes]
rs10912728	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10912733	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912735	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912737	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912740	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912741	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912746	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10912747	0.86[EUR][1000 genomes]
rs10912750	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10912751	0.83[EUR][1000 genomes]
rs10912754	0.84[EUR][1000 genomes]
rs10912757	0.88[AFR][1000 genomes]
rs10912762	0.88[AFR][1000 genomes]
rs11802158	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11807537	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12059434	0.88[AFR][1000 genomes]
rs12065785	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074276	0.82[EUR][1000 genomes]
rs12075630	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12076453	0.86[EUR][1000 genomes]
rs12076771	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12079214	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079687	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079689	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12080977	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12081445	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12082461	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083540	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12085311	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12087808	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091157	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12093691	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097252	0.88[AFR][1000 genomes]
rs12354141	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407127	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1417186	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1591944	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs16846717	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846718	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16846816	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17300775	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350956	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17350991	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17353198	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1934681	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103640	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2860907	0.86[EUR][1000 genomes]
rs3086	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233169	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607949	0.86[EUR][1000 genomes]
rs4650950	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650951	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650958	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650959	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650968	0.84[EUR][1000 genomes]
rs4650969	0.84[EUR][1000 genomes]
rs4650981	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4652179	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4652191	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652204	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652275	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55698100	0.84[EUR][1000 genomes]
rs56152378	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56158362	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56239105	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338048	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56375942	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404641	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57407575	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59044210	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425277	0.82[EUR][1000 genomes]
rs6656491	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666588	0.84[EUR][1000 genomes]
rs6668008	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670425	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676161	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678209	0.87[AFR][1000 genomes]
rs6678286	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6685499	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692437	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6693198	0.87[AFR][1000 genomes]
rs6694208	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724888	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724889	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711443	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72711448	0.97[ASN][1000 genomes]
rs72711457	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711487	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711492	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711501	0.83[EUR][1000 genomes]
rs72713503	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72713504	0.84[EUR][1000 genomes]
rs72713505	0.84[EUR][1000 genomes]
rs727912	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535987	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7551605	0.87[AFR][1000 genomes];0.86[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	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4652193	MRPS14	Cis_1M	lymphoblastoid	RTeQTL
rs4652193	RP11-160H22.5	cis	Thyroid	GTEx
rs4652193	RABGAP1L	cis	Esophagus Muscularis	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174113000-174113800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:174113000-174113800	Enhancers	Colonic Mucosa	Colon
3	chr1:174113400-174113800	Flanking Active TSS	HepG2	liver
4	chr1:174113400-174114000	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:174113600-174113800	Flanking Active TSS	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links