Variant report

Variant	rs72715216
Chromosome Location	chr1:174491632-174491633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 236 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:220)

rs_ID	r²[population]
rs1013769	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10489255	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10489256	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10489258	0.88[EUR][1000 genomes]
rs10489260	0.94[EUR][1000 genomes]
rs10489264	0.92[EUR][1000 genomes]
rs10798310	0.88[EUR][1000 genomes]
rs10798312	0.88[EUR][1000 genomes]
rs10798313	0.88[EUR][1000 genomes]
rs10798314	0.93[EUR][1000 genomes]
rs10798315	0.93[EUR][1000 genomes]
rs10912757	0.80[EUR][1000 genomes]
rs10912758	0.80[EUR][1000 genomes]
rs10912766	0.87[EUR][1000 genomes]
rs10912772	0.88[EUR][1000 genomes]
rs10912775	0.88[EUR][1000 genomes]
rs10912776	0.88[EUR][1000 genomes]
rs10912777	0.88[EUR][1000 genomes]
rs10912778	0.88[EUR][1000 genomes]
rs10912779	0.88[EUR][1000 genomes]
rs10912786	0.88[EUR][1000 genomes]
rs10912789	0.92[EUR][1000 genomes]
rs10912791	0.93[EUR][1000 genomes]
rs10912795	0.96[EUR][1000 genomes]
rs10912800	0.81[EUR][1000 genomes]
rs10912806	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912817	0.86[EUR][1000 genomes]
rs10912821	0.85[EUR][1000 genomes]
rs10912822	0.86[EUR][1000 genomes]
rs10912828	0.85[EUR][1000 genomes]
rs10912829	0.85[EUR][1000 genomes]
rs11484645	0.97[EUR][1000 genomes]
rs11487399	0.81[EUR][1000 genomes]
rs11799535	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11799704	0.88[EUR][1000 genomes]
rs11802092	0.88[EUR][1000 genomes]
rs11805578	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11806996	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11807229	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11809482	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11810824	0.88[EUR][1000 genomes]
rs12058377	0.93[EUR][1000 genomes]
rs12059307	0.87[EUR][1000 genomes]
rs12062016	0.86[EUR][1000 genomes]
rs12062483	0.81[EUR][1000 genomes]
rs12063545	0.93[EUR][1000 genomes]
rs12064126	0.88[EUR][1000 genomes]
rs12064749	0.83[EUR][1000 genomes]
rs12065326	0.88[EUR][1000 genomes]
rs12065454	0.96[EUR][1000 genomes]
rs12065825	0.85[EUR][1000 genomes]
rs12066504	0.80[EUR][1000 genomes]
rs12067852	0.82[EUR][1000 genomes]
rs12069134	0.92[EUR][1000 genomes]
rs12070095	0.87[EUR][1000 genomes]
rs12073068	0.84[EUR][1000 genomes]
rs12073751	0.88[EUR][1000 genomes]
rs12074416	0.90[EUR][1000 genomes]
rs12074754	0.88[EUR][1000 genomes]
rs12076548	0.93[EUR][1000 genomes]
rs12077381	0.90[EUR][1000 genomes]
rs12077529	0.82[EUR][1000 genomes]
rs12078960	0.92[EUR][1000 genomes]
rs12079118	0.92[EUR][1000 genomes]
rs12079334	0.93[EUR][1000 genomes]
rs12079757	0.82[EUR][1000 genomes]
rs12079879	0.92[EUR][1000 genomes]
rs12080407	0.90[EUR][1000 genomes]
rs12081012	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12081046	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12082012	0.92[EUR][1000 genomes]
rs12083972	0.94[EUR][1000 genomes]
rs12084291	0.88[EUR][1000 genomes]
rs12084948	0.97[EUR][1000 genomes]
rs12085652	0.92[EUR][1000 genomes]
rs12086693	0.81[EUR][1000 genomes]
rs12090860	0.88[EUR][1000 genomes]
rs12091056	0.88[EUR][1000 genomes]
rs12093966	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12095629	0.88[EUR][1000 genomes]
rs12095679	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12097931	0.92[EUR][1000 genomes]
rs1474575	0.92[EUR][1000 genomes]
rs149099	0.82[EUR][1000 genomes]
rs16828481	0.89[EUR][1000 genomes]
rs16846861	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16846949	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16847012	0.92[EUR][1000 genomes]
rs16847337	0.86[AFR][1000 genomes]
rs17842157	0.80[AFR][1000 genomes]
rs1806329	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1883262	0.88[EUR][1000 genomes]
rs1989177	0.87[EUR][1000 genomes]
rs2060158	0.81[AFR][1000 genomes]
rs2064150	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2072759	0.97[EUR][1000 genomes]
rs2092084	0.92[EUR][1000 genomes]
rs2142632	0.92[EUR][1000 genomes]
rs2142864	0.80[EUR][1000 genomes]
rs2205937	0.88[EUR][1000 genomes]
rs2281009	0.97[EUR][1000 genomes]
rs2281010	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2281011	0.97[EUR][1000 genomes]
rs2760058	0.85[EUR][1000 genomes]
rs2860909	0.80[EUR][1000 genomes]
rs2860954	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2860955	0.88[EUR][1000 genomes]
rs2860959	0.88[EUR][1000 genomes]
rs2861003	0.92[EUR][1000 genomes]
rs28628056	0.88[EUR][1000 genomes]
rs2901815	0.88[EUR][1000 genomes]
rs2901817	0.88[EUR][1000 genomes]
rs2901820	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs332802	0.81[EUR][1000 genomes]
rs332806	0.82[EUR][1000 genomes]
rs333422	0.82[EUR][1000 genomes]
rs333452	0.83[EUR][1000 genomes]
rs333454	0.83[EUR][1000 genomes]
rs34409674	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35425383	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3862941	0.86[AFR][1000 genomes]
rs3920486	0.92[EUR][1000 genomes]
rs395109	0.85[EUR][1000 genomes]
rs411665	0.85[EUR][1000 genomes]
rs41266050	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4233181	0.88[EUR][1000 genomes]
rs4451598	0.86[EUR][1000 genomes]
rs4562683	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4615901	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4651008	0.87[EUR][1000 genomes]
rs4651015	0.88[EUR][1000 genomes]
rs4651016	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4651019	0.88[EUR][1000 genomes]
rs4651103	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4651114	0.84[EUR][1000 genomes]
rs4652365	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4652422	0.88[EUR][1000 genomes]
rs4652425	0.88[EUR][1000 genomes]
rs4652460	0.93[EUR][1000 genomes]
rs4652494	0.96[EUR][1000 genomes]
rs4652511	0.97[EUR][1000 genomes]
rs4652512	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4652513	0.97[EUR][1000 genomes]
rs4652652	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4652669	0.86[EUR][1000 genomes]
rs55643907	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55688014	0.84[AFR][1000 genomes]
rs55748748	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55945681	0.86[EUR][1000 genomes]
rs56148594	0.88[EUR][1000 genomes]
rs56200626	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56213002	0.82[EUR][1000 genomes]
rs56260545	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs56407387	0.90[EUR][1000 genomes]
rs57512497	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57953555	0.88[EUR][1000 genomes]
rs60409344	0.81[EUR][1000 genomes]
rs60864659	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61218633	0.88[EUR][1000 genomes]
rs6656925	0.93[EUR][1000 genomes]
rs6663959	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6665535	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6667107	0.85[EUR][1000 genomes]
rs6668096	0.82[EUR][1000 genomes]
rs6674239	0.93[EUR][1000 genomes]
rs6677262	0.92[EUR][1000 genomes]
rs6681970	0.81[EUR][1000 genomes]
rs6682070	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6682997	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6684688	0.88[EUR][1000 genomes]
rs6689153	0.85[EUR][1000 genomes]
rs6689327	0.93[EUR][1000 genomes]
rs6689589	0.96[EUR][1000 genomes]
rs6692173	0.82[EUR][1000 genomes]
rs6693198	0.80[EUR][1000 genomes]
rs6696945	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6699142	0.81[EUR][1000 genomes]
rs6699697	0.88[EUR][1000 genomes]
rs6701534	0.88[EUR][1000 genomes]
rs6701619	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6701911	0.88[EUR][1000 genomes]
rs72713528	0.80[EUR][1000 genomes]
rs72713532	0.87[EUR][1000 genomes]
rs72713537	0.88[EUR][1000 genomes]
rs72713540	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72713553	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72713583	0.92[EUR][1000 genomes]
rs72713584	0.92[EUR][1000 genomes]
rs72713586	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713591	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72713602	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72715204	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72715218	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715224	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715226	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72715237	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715240	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72715245	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72715253	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72715255	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72715259	0.86[EUR][1000 genomes]
rs72715260	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72715262	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72715273	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs74126805	0.92[EUR][1000 genomes]
rs74128393	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7413513	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7414200	0.92[EUR][1000 genomes]
rs7515116	0.93[EUR][1000 genomes]
rs7516353	0.84[EUR][1000 genomes]
rs7517516	0.87[EUR][1000 genomes]
rs7537823	0.96[EUR][1000 genomes]
rs7550472	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7554728	0.82[EUR][1000 genomes]
rs7554740	0.81[EUR][1000 genomes]
rs909533	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs926327	0.88[EUR][1000 genomes]
rs926349	0.88[EUR][1000 genomes]
rs969472	0.92[EUR][1000 genomes]
rs9730220	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1010069	chr1:174215293-174539512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv872555	chr1:174343705-174565720	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1003113	chr1:174367687-174499155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv535209	chr1:174367687-174499155	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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
10	nsv1007667	chr1:174438778-174556953	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1009056	chr1:174457532-174549665	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv999295	chr1:174457532-174596961	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	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
14	nsv548195	chr1:174469002-174519276	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv2757762	chr1:174469281-174569776	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv2758979	chr1:174469281-174569776	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72715216	RABGAP1L	cis	Esophagus Muscularis	GTEx
rs72715216	RP11-160H22.5	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174442200-174491800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174486800-174493000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:174488600-174499000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:174490200-174492400	Weak transcription	Left Ventricle	heart
5	chr1:174490200-174508400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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