Variant report

Variant	rs59675442
Chromosome Location	chr14:25478777-25478778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17109444	1.00[AMR][1000 genomes]
rs55645914	0.87[AFR][1000 genomes]
rs55992748	1.00[AMR][1000 genomes]
rs55995630	1.00[AMR][1000 genomes]
rs56393711	1.00[AMR][1000 genomes]
rs58932553	1.00[AMR][1000 genomes]
rs74037427	1.00[AMR][1000 genomes]
rs74037433	0.95[AFR][1000 genomes]
rs74037434	0.86[AFR][1000 genomes]
rs74037435	0.86[AFR][1000 genomes]
rs74037436	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25473400-25478800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:25473400-25479200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:25475200-25480800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr14:25475400-25478800	Enhancers	Fetal Heart	heart
5	chr14:25475600-25478800	Weak transcription	Lung	lung
6	chr14:25475600-25479400	Enhancers	Fetal Lung	lung
7	chr14:25476200-25479400	Enhancers	Brain Cingulate Gyrus	brain
8	chr14:25476400-25479400	Enhancers	Brain Hippocampus Middle	brain
9	chr14:25476400-25485000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:25476800-25478800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:25476800-25478800	Enhancers	Brain Substantia Nigra	brain
12	chr14:25476800-25479000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:25477000-25478800	Weak transcription	NHLF	lung
14	chr14:25477000-25479000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:25477000-25479200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:25477200-25478800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:25477200-25478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:25477200-25478800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:25477200-25478800	Weak transcription	Fetal Intestine Small	intestine
20	chr14:25477200-25478800	Weak transcription	Osteobl	bone
21	chr14:25477200-25479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:25477200-25479000	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:25477200-25479000	Weak transcription	NHDF-Ad	bronchial
24	chr14:25477200-25480200	Weak transcription	Adipose Nuclei	Adipose
25	chr14:25477200-25483400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:25477400-25478800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:25477400-25478800	Weak transcription	Stomach Mucosa	stomach
28	chr14:25477400-25478800	Weak transcription	NH-A	brain
29	chr14:25477400-25479000	Weak transcription	Brain Anterior Caudate	brain
30	chr14:25477600-25478800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:25477600-25479200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:25477600-25480000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:25477600-25480000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr14:25477800-25478800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:25477800-25478800	Weak transcription	Brain Angular Gyrus	brain
36	chr14:25477800-25478800	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:25477800-25478800	Weak transcription	Pancreas	Pancrea
38	chr14:25477800-25479600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:25477800-25479800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:25477800-25480000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:25477800-25480000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr14:25477800-25480000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr14:25477800-25480000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr14:25478000-25479200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:25478000-25479400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:25478200-25478800	Active TSS	Right Ventricle	heart
47	chr14:25478200-25480000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:25478400-25478800	Enhancers	A549	lung
49	chr14:25478400-25480000	Enhancers	Left Ventricle	heart
50	chr14:25478400-25480000	Enhancers	HepG2	liver

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