Variant report

Variant	rs332804
Chromosome Location	chr1:174620222-174620223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10489264	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10494492	0.81[EUR][1000 genomes]
rs10798324	0.81[EUR][1000 genomes]
rs10912817	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912821	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912822	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912823	0.83[AMR][1000 genomes]
rs10912828	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912829	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11802092	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11805578	0.82[ASN][1000 genomes]
rs11806996	0.88[EUR][1000 genomes]
rs12062016	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12063545	0.82[ASN][1000 genomes]
rs12064403	0.88[AMR][1000 genomes]
rs12064749	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12065825	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12067463	0.83[AMR][1000 genomes]
rs12079118	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12079879	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12082012	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12085652	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1329281	0.83[EUR][1000 genomes]
rs1474575	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs149099	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1618207	0.82[EUR][1000 genomes]
rs1622802	0.83[EUR][1000 genomes]
rs1653630	0.82[EUR][1000 genomes]
rs1653634	0.83[EUR][1000 genomes]
rs16847335	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16847337	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1754353	0.81[EUR][1000 genomes]
rs1754354	0.81[EUR][1000 genomes]
rs17842156	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17842157	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1793292	0.85[EUR][1000 genomes]
rs1793294	0.85[EUR][1000 genomes]
rs1793295	0.83[EUR][1000 genomes]
rs1793298	0.84[EUR][1000 genomes]
rs1793316	0.81[EUR][1000 genomes]
rs1793318	0.82[EUR][1000 genomes]
rs1793320	0.82[EUR][1000 genomes]
rs1813136	0.84[EUR][1000 genomes]
rs1923818	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs193082	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2060158	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2092084	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2142632	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2146564	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2163628	0.83[EUR][1000 genomes]
rs2568096	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2568098	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2760057	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2760058	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2771401	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2861003	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2861005	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2861006	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3117838	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3117843	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs332763	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs332764	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs332767	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs332768	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs332772	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs332779	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs332781	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs332782	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs332786	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs332793	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs332797	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs332800	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs332801	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs332802	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs332806	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs333422	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs333423	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs333432	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs333436	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs333437	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs333438	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs333452	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs333454	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs333471	0.85[ASN][1000 genomes]
rs34409674	0.82[ASN][1000 genomes]
rs3862941	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3920486	0.81[EUR][1000 genomes]
rs392307	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs395109	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs398350	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs399530	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs411665	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4451598	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4562683	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs458242	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs460878	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4615901	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs464540	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs464635	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4651103	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4651114	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4652652	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4652669	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4652797	0.81[EUR][1000 genomes]
rs467437	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55643907	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55667039	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55688014	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55844798	0.81[EUR][1000 genomes]
rs55945681	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56260545	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56292878	0.81[AMR][1000 genomes]
rs60811893	0.81[EUR][1000 genomes]
rs6667107	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6675515	0.85[AMR][1000 genomes]
rs6677874	0.83[AMR][1000 genomes]
rs6689153	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6696465	0.83[EUR][1000 genomes]
rs72715245	0.82[ASN][1000 genomes]
rs72715253	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715255	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715259	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715260	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715262	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715273	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72715281	0.82[EUR][1000 genomes]
rs72715292	0.82[EUR][1000 genomes]
rs72715300	0.81[EUR][1000 genomes]
rs72717608	0.80[EUR][1000 genomes]
rs7414200	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7516353	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs913688	0.81[EUR][1000 genomes]
rs989424	0.81[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs332804	RABGAP1L	cis	Esophagus Muscularis	GTEx
rs332804	RABGAP1L	cis	Thyroid	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174606200-174621600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:174607600-174628600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:174607600-174637000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:174607600-174677800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:174612400-174638200	Weak transcription	Aorta	Aorta
6	chr1:174613600-174637000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:174617800-174625800	Weak transcription	HepG2	liver

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