Variant report

Variant	rs12894068
Chromosome Location	chr14:37771346-37771347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10132039	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10134502	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10139938	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10140266	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10141058	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10145536	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146056	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10149217	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10149280	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10150919	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10151106	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10220291	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11156943	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1123541	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12436405	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12886692	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12888204	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1546975	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17106535	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17106539	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1950517	0.82[EUR][1000 genomes]
rs1950524	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1950527	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1950883	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1950884	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1950886	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1955938	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1955939	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1998140	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2064669	0.82[EUR][1000 genomes]
rs2103890	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2145179	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2180632	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415391	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415400	0.80[EUR][1000 genomes]
rs28524861	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34153734	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34169316	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34844597	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35276662	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36134910	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3985275	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4274350	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4349060	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4576980	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4900751	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4900820	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61988339	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61989590	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7143938	0.85[AMR][1000 genomes]
rs7151222	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72671734	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs743077	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8004202	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8004441	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8009361	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8018499	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8181946	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9743535	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9796439	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv915783	chr14:37607836-38002966	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036854	chr14:37609535-38013533	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv542045	chr14:37609535-38013533	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv901635	chr14:37623177-37782273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3528451	chr14:37631483-37771365	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3527359	chr14:37631504-37771435	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3370191	chr14:37631508-37771354	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3527361	chr14:37631554-37771408	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv901638	chr14:37702799-37814824	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1797813	chr14:37738197-37846877	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1820642	chr14:37738197-37846877	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv1822817	chr14:37738197-37846877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv1851834	chr14:37738197-37846877	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv901639	chr14:37743583-38038468	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	esv2617029	chr14:37762732-37772615	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
17	esv3337995	chr14:37767601-37773099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3392829	chr14:37768401-37772299	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
19	esv3427299	chr14:37768626-37772574	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
20	nsv511542	chr14:37768769-37773666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1813852	chr14:37768769-37810699	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv3438964	chr14:37768901-37771799	Weak transcription	n/a	n/a	inside rSNPs	diseases
23	esv1818961	chr14:37769624-37773666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1837727	chr14:37770150-37773666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37752400-37796200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:37754200-37781400	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:37759000-37810600	Weak transcription	Psoas Muscle	Psoas
4	chr14:37761000-37778400	Weak transcription	HUVEC	blood vessel
5	chr14:37762400-37776200	Weak transcription	Fetal Lung	lung
6	chr14:37762600-37812400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:37763200-37778400	Weak transcription	Ovary	ovary
8	chr14:37763200-37797400	Weak transcription	Left Ventricle	heart
9	chr14:37763400-37773200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:37765000-37777200	Weak transcription	HepG2	liver
11	chr14:37769400-37800000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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