Variant report

Variant	rs17109431
Chromosome Location	chr14:25454852-25454853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10137010	0.86[AMR][1000 genomes]
rs17109419	0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs17109433	0.86[AMR][1000 genomes]
rs56362631	0.86[AMR][1000 genomes]
rs58279692	0.86[AMR][1000 genomes]
rs59957224	0.82[AFR][1000 genomes]
rs73595321	0.86[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:56 , 50 per page) page: 1 2

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	chr14:25436600-25455400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:25451800-25456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:25451800-25470200	Weak transcription	HSMMtube	muscle
6	chr14:25452200-25459000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:25452400-25455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:25452400-25455800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:25452600-25456000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:25452800-25470000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:25453200-25455000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr14:25453200-25456200	Enhancers	Small Intestine	intestine
13	chr14:25453400-25456000	Enhancers	Fetal Intestine Small	intestine
14	chr14:25453600-25455000	Enhancers	Rectal Smooth Muscle	rectum
15	chr14:25453600-25455800	Enhancers	Fetal Intestine Large	intestine
16	chr14:25453600-25456400	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:25453800-25455000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr14:25453800-25455000	Enhancers	HUVEC	blood vessel
19	chr14:25454000-25455200	Enhancers	Stomach Smooth Muscle	stomach
20	chr14:25454000-25455400	Enhancers	Colon Smooth Muscle	Colon
21	chr14:25454000-25455800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:25454000-25455800	Enhancers	Brain Substantia Nigra	brain
23	chr14:25454000-25455800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr14:25454000-25456000	Enhancers	Fetal Lung	lung
25	chr14:25454200-25455000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr14:25454200-25455400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr14:25454200-25455800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:25454200-25455800	Enhancers	Adipose Nuclei	Adipose
29	chr14:25454200-25455800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr14:25454200-25455800	Enhancers	Fetal Muscle Leg	muscle
31	chr14:25454200-25455800	Enhancers	Right Ventricle	heart
32	chr14:25454200-25456000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:25454200-25456000	Enhancers	Fetal Heart	heart
34	chr14:25454200-25456200	Enhancers	Stomach Mucosa	stomach
35	chr14:25454400-25455000	Enhancers	Placenta	Placenta
36	chr14:25454400-25455200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:25454400-25455800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr14:25454400-25455800	Enhancers	Fetal Stomach	stomach
39	chr14:25454400-25456000	Enhancers	Brain Cingulate Gyrus	brain
40	chr14:25454400-25456000	Enhancers	Left Ventricle	heart
41	chr14:25454400-25456400	Weak transcription	HSMM	muscle
42	chr14:25454600-25455000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr14:25454600-25455200	Weak transcription	Fetal Brain Male	brain
44	chr14:25454600-25455200	Enhancers	Gastric	stomach
45	chr14:25454600-25455600	Weak transcription	Brain Angular Gyrus	brain
46	chr14:25454600-25456000	Enhancers	Brain Hippocampus Middle	brain
47	chr14:25454600-25456000	Enhancers	Right Atrium	heart
48	chr14:25454600-25456600	Enhancers	Brain Anterior Caudate	brain
49	chr14:25454800-25455200	Weak transcription	Psoas Muscle	Psoas
50	chr14:25454800-25455200	Enhancers	K562	blood

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