Variant report

Variant	rs17109444
Chromosome Location	chr14:25459192-25459193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55992748	1.00[AMR][1000 genomes]
rs55995630	1.00[AMR][1000 genomes]
rs56393711	1.00[AMR][1000 genomes]
rs58932553	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59675442	1.00[AMR][1000 genomes]
rs74037408	0.87[AFR][1000 genomes]
rs74037427	1.00[AMR][1000 genomes]
rs74037433	0.83[AFR][1000 genomes]
rs74037434	0.83[AFR][1000 genomes]
rs74037435	0.83[AFR][1000 genomes]
rs74037436	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25424600-25460600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:25430000-25465800	Weak transcription	Lung	lung
3	chr14:25451800-25470200	Weak transcription	HSMMtube	muscle
4	chr14:25452800-25470000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:25454800-25463000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:25455000-25462400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:25455000-25470200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:25455200-25461200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:25455800-25460200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:25455800-25461000	Weak transcription	Right Ventricle	heart
11	chr14:25455800-25462400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:25455800-25463000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:25455800-25464400	Weak transcription	Brain Substantia Nigra	brain
14	chr14:25456000-25460000	Weak transcription	Fetal Heart	heart
15	chr14:25456000-25461000	Weak transcription	Right Atrium	heart
16	chr14:25456000-25461800	Weak transcription	Gastric	stomach
17	chr14:25456000-25462200	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:25456000-25462800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:25456000-25472800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:25456200-25460600	Weak transcription	Stomach Mucosa	stomach
21	chr14:25456400-25466200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:25456400-25472800	Weak transcription	Brain Angular Gyrus	brain
23	chr14:25456600-25461400	Weak transcription	Brain Anterior Caudate	brain
24	chr14:25456800-25459600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr14:25456800-25459800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:25457200-25459600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr14:25457200-25460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:25457200-25466200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:25457600-25459600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr14:25457800-25459800	Strong transcription	Fetal Intestine Small	intestine
31	chr14:25458000-25461200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:25458000-25470200	Weak transcription	HepG2	liver
33	chr14:25458600-25459400	Strong transcription	HSMM	muscle
34	chr14:25458800-25459200	Genic enhancers	Pancreas	Pancrea
35	chr14:25458800-25459400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:25458800-25459400	Genic enhancers	Fetal Lung	lung
37	chr14:25458800-25459600	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:25458800-25459600	Enhancers	Placenta	Placenta
39	chr14:25458800-25459600	Genic enhancers	Left Ventricle	heart
40	chr14:25459000-25459400	Enhancers	Adipose Nuclei	Adipose
41	chr14:25459000-25459400	Strong transcription	Fetal Intestine Large	intestine
42	chr14:25459000-25459600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:25459000-25460200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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