Variant report

Variant	rs12888023
Chromosome Location	chr14:25318067-25318068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12878320	0.80[EUR][1000 genomes]
rs12880667	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12887071	0.89[EUR][1000 genomes]
rs12889497	0.87[EUR][1000 genomes]
rs12893848	0.87[EUR][1000 genomes]
rs2297061	0.89[EUR][1000 genomes]
rs3783445	0.81[AMR][1000 genomes];0.81[EUR][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	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	nsv901506	chr14:25295551-25377188	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25288600-25322800	Weak transcription	Placenta	Placenta
2	chr14:25306600-25321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:25307200-25319400	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:25309000-25328000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:25309800-25323000	Weak transcription	Pancreas	Pancrea
6	chr14:25309800-25324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:25310000-25321000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:25310200-25320800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:25313200-25319200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:25313800-25320800	Weak transcription	Left Ventricle	heart
11	chr14:25313800-25323400	Weak transcription	Small Intestine	intestine
12	chr14:25314600-25333600	Weak transcription	Lung	lung
13	chr14:25315000-25319600	Enhancers	Brain Anterior Caudate	brain
14	chr14:25315400-25319200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:25315400-25319400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:25315400-25320800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:25315600-25320800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:25315600-25321000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:25315600-25321400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:25315600-25330400	Weak transcription	Brain Angular Gyrus	brain
21	chr14:25315800-25320200	Weak transcription	Fetal Intestine Large	intestine
22	chr14:25315800-25320800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:25315800-25320800	Weak transcription	HepG2	liver
24	chr14:25315800-25324200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:25316000-25320800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:25316000-25330400	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:25316400-25319200	Enhancers	HSMM	muscle
28	chr14:25316600-25320800	Weak transcription	Fetal Intestine Small	intestine
29	chr14:25316800-25319200	Enhancers	Fetal Lung	lung
30	chr14:25316800-25320200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:25317000-25318200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr14:25317000-25318200	Enhancers	Hela-S3	cervix
33	chr14:25317000-25320000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:25317400-25318200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:25317400-25318200	Enhancers	Fetal Heart	heart
36	chr14:25317400-25318200	Flanking Active TSS	HSMMtube	muscle
37	chr14:25317400-25318400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr14:25317400-25318400	Enhancers	NH-A	brain
39	chr14:25317400-25319600	Enhancers	NHDF-Ad	bronchial
40	chr14:25317600-25318200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr14:25317600-25318400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:25317600-25318400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:25317600-25318400	Enhancers	NHEK	skin
44	chr14:25317800-25318800	Weak transcription	Fetal Stomach	stomach
45	chr14:25317800-25323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:25317800-25344000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:25318000-25318400	Enhancers	Osteobl	bone
48	chr14:25318000-25318600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr14:25318000-25321200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:25318000-25328400	Weak transcription	Right Ventricle	heart

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