Variant report

Variant	rs8181975
Chromosome Location	chr14:25433327-25433328
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:6)

rs_ID	r²[population]
rs11159008	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12432656	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17257661	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72682965	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72682974	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72682975	0.83[EUR][1000 genomes];0.84[ASN][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	nsv901508	chr14:25365505-25451903	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	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
6	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
7	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25422600-25434000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:25424600-25460600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:25426400-25435000	Weak transcription	Aorta	Aorta
4	chr14:25428200-25435000	Weak transcription	Osteobl	bone
5	chr14:25428800-25434800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:25429400-25433400	Weak transcription	Stomach Mucosa	stomach
7	chr14:25429400-25434200	Weak transcription	HSMM	muscle
8	chr14:25429600-25433400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:25429600-25434400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:25429600-25435000	Weak transcription	Adipose Nuclei	Adipose
11	chr14:25429600-25435000	Weak transcription	Right Atrium	heart
12	chr14:25430000-25433400	Weak transcription	Left Ventricle	heart
13	chr14:25430000-25433400	Weak transcription	Pancreas	Pancrea
14	chr14:25430000-25433400	Weak transcription	Psoas Muscle	Psoas
15	chr14:25430000-25434200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:25430000-25434800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:25430000-25434800	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:25430000-25434800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:25430000-25435000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:25430000-25435000	Weak transcription	Liver	Liver
21	chr14:25430000-25435000	Weak transcription	Gastric	stomach
22	chr14:25430000-25435000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:25430000-25435000	Weak transcription	NHLF	lung
24	chr14:25430000-25465800	Weak transcription	Lung	lung
25	chr14:25430200-25433400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:25430200-25433400	Weak transcription	Brain Substantia Nigra	brain
27	chr14:25430200-25433600	Weak transcription	Small Intestine	intestine
28	chr14:25430200-25435000	Weak transcription	Fetal Lung	lung
29	chr14:25430400-25433400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:25430400-25433400	Weak transcription	HepG2	liver
31	chr14:25430400-25434400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:25430400-25434600	Weak transcription	NHDF-Ad	bronchial
33	chr14:25430600-25433400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:25430600-25433400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:25430600-25434400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:25430600-25434400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:25430600-25434400	Weak transcription	Brain Angular Gyrus	brain
38	chr14:25430600-25435000	Weak transcription	Fetal Stomach	stomach
39	chr14:25432600-25435000	Enhancers	Stomach Smooth Muscle	stomach
40	chr14:25432800-25436800	Enhancers	Brain Hippocampus Middle	brain
41	chr14:25433000-25435200	Enhancers	Right Ventricle	heart
42	chr14:25433000-25439200	Enhancers	Fetal Intestine Small	intestine
43	chr14:25433200-25433800	Enhancers	Fetal Intestine Large	intestine
44	chr14:25433200-25434000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:25433200-25435000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:25433200-25436200	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:25433200-25436400	Enhancers	Brain Anterior Caudate	brain
48	chr14:25433200-25436400	Enhancers	Colon Smooth Muscle	Colon
49	chr14:25433200-25436400	Enhancers	Fetal Heart	heart

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