Variant report

Variant	rs333453
Chromosome Location	chr1:174623770-174623771
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 222 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:216)

rs_ID	r²[population]
rs1013769	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs10489260	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs10489264	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10494492	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs10798314	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs10798315	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs10798319	0.95[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs10798324	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs10798327	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs10912789	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs10912791	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs10912799	0.89[EUR][1000 genomes]
rs10912800	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs10912817	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10912820	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10912821	0.85[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10912822	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10912823	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10912828	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10912829	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10912843	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs11487399	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs11802092	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11805578	0.88[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11806996	0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs12062016	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12062170	0.89[EUR][1000 genomes]
rs12062483	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs12063545	0.85[ASN][1000 genomes]
rs12064743	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs12065454	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs12065825	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12067463	0.95[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12071794	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs12076548	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12077529	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs12079118	0.85[ASN][1000 genomes]
rs12079334	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12079879	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12080535	0.95[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12082012	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12082139	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12083628	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12083972	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs12085652	0.85[ASN][1000 genomes]
rs12086693	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs12092768	0.85[EUR][1000 genomes]
rs12093966	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1231829	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1329281	1.00[JPT][hapmap]
rs1474575	0.85[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs149099	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1613634	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1618408	0.86[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs1622802	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs162815	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1653630	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1653636	0.86[EUR][1000 genomes]
rs16847335	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16847337	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1754352	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1754354	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1754360	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17842156	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17842157	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1793292	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1793294	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1793298	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1793305	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1793307	0.95[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs1793310	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs1793313	0.88[EUR][1000 genomes]
rs1793315	0.82[EUR][1000 genomes]
rs1793316	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1793320	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1813136	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1894198	0.82[EUR][1000 genomes]
rs1894199	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1894201	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs1923818	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs193082	0.85[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2003378	1.00[JPT][hapmap]
rs2012558	0.87[EUR][1000 genomes]
rs2060158	0.81[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2092084	0.85[ASN][1000 genomes]
rs2142632	0.85[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2146564	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2156854	0.88[JPT][hapmap]
rs2183202	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs2281009	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2281010	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2281011	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2760057	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2760058	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2771401	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2860725	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2861003	0.85[ASN][1000 genomes]
rs2861005	0.90[ASN][1000 genomes]
rs2861006	0.90[ASN][1000 genomes]
rs2901818	0.95[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2901820	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2981892	0.82[EUR][1000 genomes]
rs2987872	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2987873	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs3117838	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs3117843	0.88[ASN][1000 genomes]
rs3118986	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs3118987	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs3118988	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs3118990	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs332763	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs332764	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs332767	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs332768	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs332772	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs332779	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs332781	0.85[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs332782	0.85[ASN][1000 genomes]
rs332784	1.00[CEU][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs332786	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs332793	0.80[ASN][1000 genomes]
rs332797	0.80[ASN][1000 genomes]
rs332798	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs332800	1.00[JPT][hapmap]
rs332801	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs332802	0.81[EUR][1000 genomes]
rs332806	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs333422	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs333423	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs333436	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs333437	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs333438	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs333452	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs333454	0.90[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs333471	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34409674	0.85[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3862941	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3920486	0.85[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs395109	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs398350	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs399530	0.90[ASN][1000 genomes]
rs411665	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41472847	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs4451598	0.85[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4480415	0.88[JPT][hapmap]
rs4562683	0.85[ASN][1000 genomes]
rs458242	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs459078	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4615901	0.85[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs464540	0.90[ASN][1000 genomes]
rs464635	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs4651103	0.85[ASN][1000 genomes]
rs4651114	0.80[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4652460	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs4652494	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs4652500	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4652511	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs4652512	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs4652513	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs4652652	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4652669	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4652797	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs467437	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs5015737	0.86[EUR][1000 genomes]
rs55643907	0.85[ASN][1000 genomes]
rs55667039	0.90[ASN][1000 genomes]
rs55688014	0.90[ASN][1000 genomes]
rs55945681	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56213002	0.89[EUR][1000 genomes]
rs56260545	0.85[ASN][1000 genomes]
rs56292878	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61624206	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6656925	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs6658315	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6665535	0.89[CEU][hapmap]
rs6667107	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6668096	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6674239	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs6677874	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6681970	0.94[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs6682070	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs6682997	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs6684141	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs6687616	0.82[CEU][hapmap];0.88[JPT][hapmap]
rs6689153	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6689327	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs6691118	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6692173	0.89[EUR][1000 genomes]
rs6696465	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs6700953	0.82[EUR][1000 genomes]
rs72713601	0.86[EUR][1000 genomes]
rs72715240	0.83[ASN][1000 genomes]
rs72715245	0.85[ASN][1000 genomes]
rs72715253	0.85[ASN][1000 genomes]
rs72715255	0.85[ASN][1000 genomes]
rs72715259	0.85[ASN][1000 genomes]
rs72715260	0.85[ASN][1000 genomes]
rs72715262	0.85[ASN][1000 genomes]
rs72715273	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72717637	0.82[EUR][1000 genomes]
rs7414200	0.82[CEU][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs7515116	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs7516353	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7522253	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7530265	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7536102	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7537823	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs7542775	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7550472	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs7554728	0.89[EUR][1000 genomes]
rs7554740	0.88[EUR][1000 genomes]
rs909533	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs913687	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs969472	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs9729907	0.86[EUR][1000 genomes]
rs9730220	0.88[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	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv534381	chr1:174468168-174656796	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1803591	chr1:174594575-174642336	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs333453	RABGAP1L	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174607600-174628600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:174607600-174637000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:174607600-174677800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:174612400-174638200	Weak transcription	Aorta	Aorta
5	chr1:174613600-174637000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:174617800-174625800	Weak transcription	HepG2	liver
7	chr1:174621600-174625200	Enhancers	Fetal Lung	lung
8	chr1:174622200-174626000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:174622800-174625800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:174623200-174628600	Weak transcription	Fetal Heart	heart
11	chr1:174623400-174626000	Weak transcription	Left Ventricle	heart
12	chr1:174623600-174625200	Weak transcription	Fetal Brain Male	brain

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