Variant report

Variant	rs982468
Chromosome Location	chr14:25285710-25285711
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10459539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11158950	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs12880667	0.93[CHB][hapmap]
rs17108302	0.86[ASN][1000 genomes]
rs17257465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs854329	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs854337	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs982467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25276200-25286600	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:25277800-25286600	Weak transcription	Placenta	Placenta
3	chr14:25278000-25286400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:25278600-25287600	Enhancers	Fetal Intestine Large	intestine
5	chr14:25279800-25286400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:25279800-25286800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:25279800-25287400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:25280000-25286200	Weak transcription	Brain Substantia Nigra	brain
9	chr14:25280600-25286400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:25280600-25286600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:25280800-25285800	Weak transcription	Brain Anterior Caudate	brain
12	chr14:25280800-25289200	Weak transcription	Fetal Stomach	stomach
13	chr14:25281800-25287400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:25283000-25288600	Enhancers	Left Ventricle	heart
15	chr14:25283600-25285800	Enhancers	Liver	Liver
16	chr14:25283800-25287400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:25284600-25286200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr14:25284600-25288000	Enhancers	Stomach Mucosa	stomach
19	chr14:25284600-25289200	Enhancers	Pancreas	Pancrea
20	chr14:25284800-25285800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr14:25284800-25286000	Enhancers	Fetal Kidney	kidney
22	chr14:25284800-25286000	Enhancers	Gastric	stomach
23	chr14:25284800-25286400	Genic enhancers	Fetal Muscle Leg	muscle
24	chr14:25284800-25287400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr14:25284800-25288400	Enhancers	Right Atrium	heart
26	chr14:25284800-25288600	Genic enhancers	Fetal Lung	lung
27	chr14:25284800-25288800	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr14:25285000-25286000	Enhancers	Esophagus	oesophagus
29	chr14:25285000-25288000	Enhancers	Lung	lung
30	chr14:25285000-25288400	Flanking Active TSS	HepG2	liver
31	chr14:25285200-25285800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:25285200-25285800	Enhancers	NHEK	skin
33	chr14:25285200-25286000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:25285200-25286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:25285200-25286000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:25285200-25286000	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr14:25285200-25288600	Enhancers	Fetal Heart	heart
38	chr14:25285200-25302200	Weak transcription	HSMM	muscle
39	chr14:25285400-25285800	Enhancers	Adipose Nuclei	Adipose
40	chr14:25285400-25285800	Enhancers	HSMMtube	muscle
41	chr14:25285400-25287800	Enhancers	Brain Angular Gyrus	brain
42	chr14:25285600-25285800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:25285600-25285800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:25285600-25285800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:25285600-25285800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr14:25285600-25285800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr14:25285600-25286000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr14:25285600-25286200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr14:25285600-25286400	Weak transcription	Right Ventricle	heart
50	chr14:25285600-25286800	Weak transcription	Colonic Mucosa	Colon

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