Variant report

Variant	rs17109598
Chromosome Location	chr14:25578277-25578278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17109452	0.83[AMR][1000 genomes]
rs17109472	0.83[AMR][1000 genomes]
rs17109481	0.83[AMR][1000 genomes]
rs1958382	0.86[YRI][hapmap]
rs8009270	0.85[AFR][1000 genomes]
rs8012808	0.85[AFR][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	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
2	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
3	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3490801	chr14:25560793-25675699	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3490802	chr14:25560793-25675699	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25577600-25578600	Enhancers	Left Ventricle	heart
2	chr14:25577600-25578800	Enhancers	Fetal Muscle Leg	muscle
3	chr14:25577600-25579200	Enhancers	NHDF-Ad	bronchial
4	chr14:25577600-25579800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:25577600-25580000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr14:25577600-25580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:25577600-25580200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:25577600-25581200	Enhancers	Fetal Heart	heart
9	chr14:25577800-25578400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:25577800-25578400	Enhancers	Psoas Muscle	Psoas
11	chr14:25577800-25578400	Enhancers	Right Atrium	heart
12	chr14:25577800-25578400	Enhancers	Spleen	Spleen
13	chr14:25577800-25578600	Enhancers	Gastric	stomach
14	chr14:25577800-25578600	Enhancers	Pancreas	Pancrea
15	chr14:25577800-25578600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr14:25577800-25578800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr14:25577800-25578800	Enhancers	Colon Smooth Muscle	Colon
18	chr14:25577800-25579200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:25577800-25579200	Enhancers	Fetal Intestine Large	intestine
20	chr14:25577800-25579600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:25577800-25579600	Enhancers	Brain Anterior Caudate	brain
22	chr14:25577800-25580200	Enhancers	HSMM	muscle
23	chr14:25577800-25580400	Enhancers	HSMMtube	muscle
24	chr14:25577800-25580800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:25577800-25580800	Enhancers	Brain Hippocampus Middle	brain
26	chr14:25577800-25581200	Enhancers	NHLF	lung
27	chr14:25577800-25582600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr14:25578000-25578400	Enhancers	Brain Angular Gyrus	brain
29	chr14:25578000-25578400	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr14:25578000-25578400	Enhancers	Brain Germinal Matrix	brain
31	chr14:25578000-25578400	Enhancers	Esophagus	oesophagus
32	chr14:25578000-25578400	Enhancers	Fetal Brain Male	brain
33	chr14:25578000-25578400	Enhancers	Fetal Muscle Trunk	muscle
34	chr14:25578000-25578400	Enhancers	Lung	lung
35	chr14:25578000-25578400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr14:25578000-25578600	Enhancers	Adipose Nuclei	Adipose
37	chr14:25578000-25578600	Enhancers	Right Ventricle	heart
38	chr14:25578000-25578600	Enhancers	Stomach Mucosa	stomach
39	chr14:25578000-25578800	Enhancers	Fetal Lung	lung
40	chr14:25578000-25579200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:25578000-25579400	Enhancers	Fetal Intestine Small	intestine
42	chr14:25578000-25580200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:25578000-25580400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:25578000-25580600	Enhancers	Osteobl	bone
45	chr14:25578000-25580800	Enhancers	Brain Substantia Nigra	brain
46	chr14:25578000-25581200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:25578200-25578400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:25578200-25578600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr14:25578200-25578600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr14:25578200-25578800	Enhancers	NH-A	brain

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