Variant report

Variant	rs56393711
Chromosome Location	chr14:25471121-25471122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17109444	1.00[AMR][1000 genomes]
rs55856138	0.89[AFR][1000 genomes]
rs55992748	1.00[AMR][1000 genomes]
rs55995630	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58932553	1.00[AMR][1000 genomes]
rs59675442	1.00[AMR][1000 genomes]
rs74037427	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74037436	0.89[AFR][1000 genomes];1.00[AMR][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	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	nsv1041051	chr14:25388230-25480511	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1047792	chr14:25388933-25503799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25456000-25472800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr14:25456400-25472800	Weak transcription	Brain Angular Gyrus	brain
3	chr14:25461400-25473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:25461600-25472800	Weak transcription	Pancreas	Pancrea
5	chr14:25461600-25472800	Weak transcription	Right Atrium	heart
6	chr14:25463200-25476600	Weak transcription	Placenta	Placenta
7	chr14:25464600-25472800	Weak transcription	Right Ventricle	heart
8	chr14:25466600-25472800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:25466800-25473400	Weak transcription	Fetal Intestine Small	intestine
10	chr14:25468000-25476000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:25469000-25472200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:25469800-25471400	Enhancers	Adipose Nuclei	Adipose
13	chr14:25470000-25471400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:25470000-25471400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:25470000-25471400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:25470200-25471200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:25470200-25471600	Weak transcription	Left Ventricle	heart
18	chr14:25470400-25471200	Enhancers	Stomach Mucosa	stomach
19	chr14:25470400-25471400	Enhancers	NHDF-Ad	bronchial
20	chr14:25470600-25472200	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:25470600-25472200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:25470600-25472600	Weak transcription	Brain Anterior Caudate	brain
23	chr14:25470600-25472800	Weak transcription	Osteobl	bone
24	chr14:25470600-25475600	Weak transcription	NH-A	brain
25	chr14:25470800-25471200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:25470800-25472200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:25470800-25472200	Weak transcription	Fetal Heart	heart
28	chr14:25470800-25472200	Weak transcription	HSMM	muscle
29	chr14:25470800-25472400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:25470800-25472400	Weak transcription	HepG2	liver
31	chr14:25470800-25472400	Weak transcription	HSMMtube	muscle
32	chr14:25470800-25472800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:25470800-25475600	Weak transcription	Fetal Lung	lung
34	chr14:25470800-25475800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:25470800-25475800	Weak transcription	NHLF	lung
36	chr14:25471000-25471200	Enhancers	Stomach Smooth Muscle	stomach
37	chr14:25471000-25471400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:25471000-25472400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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