Variant report

Variant	rs28486054
Chromosome Location	chr14:25287749-25287750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:25277222..25279364-chr14:25286219..25288103,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73591608	1.00[AMR][1000 genomes]
rs73591610	1.00[AMR][1000 genomes]
rs73591637	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	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv456169	chr14:25270335-25288227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv564071	chr14:25270335-25288227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25280800-25289200	Weak transcription	Fetal Stomach	stomach
2	chr14:25283000-25288600	Enhancers	Left Ventricle	heart
3	chr14:25284600-25288000	Enhancers	Stomach Mucosa	stomach
4	chr14:25284600-25289200	Enhancers	Pancreas	Pancrea
5	chr14:25284800-25288400	Enhancers	Right Atrium	heart
6	chr14:25284800-25288600	Genic enhancers	Fetal Lung	lung
7	chr14:25284800-25288800	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr14:25285000-25288000	Enhancers	Lung	lung
9	chr14:25285000-25288400	Flanking Active TSS	HepG2	liver
10	chr14:25285200-25288600	Enhancers	Fetal Heart	heart
11	chr14:25285200-25302200	Weak transcription	HSMM	muscle
12	chr14:25285400-25287800	Enhancers	Brain Angular Gyrus	brain
13	chr14:25285600-25287800	Enhancers	Brain Hippocampus Middle	brain
14	chr14:25285800-25288000	Flanking Active TSS	Liver	Liver
15	chr14:25285800-25288600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:25285800-25297800	Weak transcription	HSMMtube	muscle
17	chr14:25286000-25296800	Weak transcription	Esophagus	oesophagus
18	chr14:25286200-25288000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr14:25286200-25288200	Enhancers	Primary hematopoietic stem cells	blood
20	chr14:25286200-25289200	Enhancers	Brain Substantia Nigra	brain
21	chr14:25286400-25288000	Enhancers	Fetal Kidney	kidney
22	chr14:25286400-25288400	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:25286400-25288400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:25286400-25288400	Enhancers	Fetal Muscle Leg	muscle
25	chr14:25286400-25288600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:25286400-25288800	Enhancers	Right Ventricle	heart
27	chr14:25286600-25287800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr14:25286600-25288000	Enhancers	Colon Smooth Muscle	Colon
29	chr14:25286800-25288000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr14:25286800-25288400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr14:25286800-25288600	Enhancers	Fetal Muscle Trunk	muscle
32	chr14:25286800-25288800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr14:25287000-25287800	Enhancers	Gastric	stomach
34	chr14:25287000-25288400	Enhancers	Spleen	Spleen
35	chr14:25287200-25288200	Enhancers	Placenta	Placenta
36	chr14:25287200-25288400	Enhancers	Colonic Mucosa	Colon
37	chr14:25287200-25288400	Active TSS	Rectal Smooth Muscle	rectum
38	chr14:25287400-25287800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:25287400-25287800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:25287400-25288400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:25287400-25288400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:25287400-25288400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:25287400-25288600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:25287400-25306200	Weak transcription	Brain Anterior Caudate	brain
45	chr14:25287600-25287800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:25287600-25287800	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr14:25287600-25288000	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr14:25287600-25288400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:25287600-25288400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr14:25287600-25288400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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