Variant report

Variant	rs12289940
Chromosome Location	chr11:4224589-4224590
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10128744	0.83[ASN][1000 genomes]
rs10734406	0.83[ASN][1000 genomes]
rs10742251	0.83[ASN][1000 genomes]
rs10742252	0.83[ASN][1000 genomes]
rs10742256	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767872	0.96[ASN][1000 genomes]
rs10767878	0.95[ASN][1000 genomes]
rs10767881	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10767882	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10767886	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10767891	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10835694	0.96[ASN][1000 genomes]
rs10835695	0.96[ASN][1000 genomes]
rs10835699	0.83[ASN][1000 genomes]
rs10835701	0.83[ASN][1000 genomes]
rs10835719	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835722	0.95[ASN][1000 genomes]
rs10835723	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835729	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835734	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835735	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835736	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835743	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031156	0.96[ASN][1000 genomes]
rs11031157	0.94[ASN][1000 genomes]
rs11031159	0.87[ASN][1000 genomes]
rs11031182	0.83[ASN][1000 genomes]
rs11031184	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11031214	0.96[ASN][1000 genomes]
rs11031219	0.97[ASN][1000 genomes]
rs11031220	0.97[ASN][1000 genomes]
rs11031243	0.95[ASN][1000 genomes]
rs11031244	0.95[ASN][1000 genomes]
rs11031245	0.85[ASN][1000 genomes]
rs11031252	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12221831	0.83[ASN][1000 genomes]
rs12222136	0.96[ASN][1000 genomes]
rs12223062	0.96[ASN][1000 genomes]
rs12225982	0.96[ASN][1000 genomes]
rs12270809	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12275560	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12275634	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12281849	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282967	0.85[ASN][1000 genomes]
rs12288918	0.85[ASN][1000 genomes]
rs12292515	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12292724	0.96[ASN][1000 genomes]
rs12293706	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12295191	0.96[ASN][1000 genomes]
rs1348308	0.95[ASN][1000 genomes]
rs1348309	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1348312	0.94[ASN][1000 genomes]
rs1372806	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1442727	0.96[ASN][1000 genomes]
rs1442728	0.93[ASN][1000 genomes]
rs17283923	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17284356	0.97[ASN][1000 genomes]
rs1822288	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1822289	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2044135	0.96[ASN][1000 genomes]
rs34295904	0.97[ASN][1000 genomes]
rs34600103	0.95[ASN][1000 genomes]
rs34805399	0.97[ASN][1000 genomes]
rs35898891	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4399325	0.83[ASN][1000 genomes]
rs4579921	0.83[ASN][1000 genomes]
rs4606468	0.96[ASN][1000 genomes]
rs4631873	0.83[ASN][1000 genomes]
rs61899754	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61899755	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7103651	0.83[ASN][1000 genomes]
rs7114174	0.83[ASN][1000 genomes]
rs7130265	0.95[ASN][1000 genomes]
rs7131300	0.83[ASN][1000 genomes]
rs7479886	0.83[ASN][1000 genomes]
rs7483001	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7483481	0.89[ASN][1000 genomes]
rs7930812	0.83[ASN][1000 genomes]
rs7933127	0.83[ASN][1000 genomes]
rs7933808	0.83[ASN][1000 genomes]
rs7948575	0.83[ASN][1000 genomes]
rs894459	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs935130	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs970329	0.97[ASN][1000 genomes]
rs970330	0.95[ASN][1000 genomes]
rs979941	0.83[ASN][1000 genomes]
rs979942	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1048590	chr11:4133055-4225100	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv540911	chr11:4133055-4225100	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1053482	chr11:4138062-4276133	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3380413	chr11:4159374-4323846	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv8777	chr11:4159953-4387268	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1045527	chr11:4162019-4225100	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv34983	chr11:4162474-4325792	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv2757417	chr11:4162477-4325792	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv818795	chr11:4167416-4238930	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv467662	chr11:4185595-4272343	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv553151	chr11:4185595-4272343	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv469627	chr11:4186981-4336490	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv482725	chr11:4186981-4336490	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv428799	chr11:4186981-4336490	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv471670	chr11:4186982-4336490	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv467663	chr11:4188188-4238930	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv553152	chr11:4188188-4238930	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv469932	chr11:4200169-4272343	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv1041957	chr11:4213658-4470615	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
25	nsv540913	chr11:4213658-4470615	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
26	esv1811486	chr11:4221216-4443039	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
27	esv1814887	chr11:4221216-4510188	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
28	nsv427881	chr11:4221216-4510188	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12289940	RRM1	cis	Artery Tibial	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4223600-4224800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:4223800-4225000	Weak transcription	Left Ventricle	heart
3	chr11:4224000-4225400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:4224400-4225600	Enhancers	Fetal Heart	heart

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