Variant report

Variant	rs12893418
Chromosome Location	chr14:25378782-25378783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11847012	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12586425	1.00[ASN][1000 genomes]
rs12588743	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880456	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880978	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883258	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885474	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886704	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887754	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889054	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12891857	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896576	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17185369	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17185376	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17185397	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17257556	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17257577	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951800	1.00[ASN][1000 genomes]
rs58423583	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154597	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7155229	0.98[ASN][1000 genomes]
rs74040723	0.97[ASN][1000 genomes]
rs8003472	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1041445	chr14:25326692-25388290	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv901508	chr14:25365505-25451903	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25364800-25379800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:25370200-25379800	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:25370200-25379800	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:25370200-25380400	Weak transcription	Right Atrium	heart
5	chr14:25370200-25380600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:25370400-25380600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:25370800-25380200	Weak transcription	Brain Anterior Caudate	brain
8	chr14:25372600-25380600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:25372600-25382400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:25373400-25380400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:25374000-25380400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:25374400-25378800	Weak transcription	Fetal Intestine Small	intestine
13	chr14:25375200-25379000	Weak transcription	Fetal Heart	heart
14	chr14:25376200-25380400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:25377000-25379800	Enhancers	Pancreas	Pancrea
16	chr14:25377000-25382000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:25377200-25379400	Enhancers	Adipose Nuclei	Adipose
18	chr14:25377200-25380600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:25377200-25381400	Enhancers	HepG2	liver
20	chr14:25377400-25380000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:25377600-25379200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:25378000-25379200	Weak transcription	Gastric	stomach
23	chr14:25378000-25380200	Weak transcription	Fetal Lung	lung
24	chr14:25378200-25378800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:25378400-25379400	Enhancers	Right Ventricle	heart
26	chr14:25378400-25380000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:25378600-25378800	Weak transcription	Lung	lung
28	chr14:25378600-25379200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:25378600-25379200	Weak transcription	Left Ventricle	heart
30	chr14:25378600-25379400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:25378600-25380400	Weak transcription	Placenta	Placenta

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