Variant report

Variant	rs28730543
Chromosome Location	chr14:25414148-25414149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10483290	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11847172	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17109350	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1951799	0.82[ASN][1000 genomes]
rs1980712	0.82[ASN][1000 genomes]
rs2057499	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28594628	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28892979	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4983037	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25396600-25415800	Weak transcription	Fetal Brain Male	brain
2	chr14:25410000-25414200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:25410600-25414200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:25410800-25414200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:25412000-25417600	Weak transcription	HepG2	liver
6	chr14:25412400-25417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:25412600-25414200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:25412600-25414200	Enhancers	Brain Hippocampus Middle	brain
9	chr14:25412600-25417600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:25412600-25422200	Weak transcription	Fetal Lung	lung
11	chr14:25412600-25422200	Weak transcription	Lung	lung
12	chr14:25412600-25422400	Weak transcription	Right Ventricle	heart
13	chr14:25412600-25423600	Weak transcription	Right Atrium	heart
14	chr14:25412600-25426600	Weak transcription	Fetal Intestine Small	intestine
15	chr14:25412600-25426800	Weak transcription	Fetal Intestine Large	intestine
16	chr14:25412800-25417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:25413000-25417600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:25413200-25414800	Enhancers	Brain Anterior Caudate	brain
19	chr14:25413400-25414200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:25413400-25417200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:25413400-25417400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:25413600-25414200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr14:25413600-25414200	Enhancers	Brain Angular Gyrus	brain
24	chr14:25413600-25414200	Enhancers	Brain Cingulate Gyrus	brain
25	chr14:25413600-25414200	Enhancers	Brain Substantia Nigra	brain
26	chr14:25413600-25414200	Enhancers	Pancreas	Pancrea
27	chr14:25413600-25415000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:25413600-25417400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:25413600-25422200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:25413800-25414200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr14:25413800-25414200	Enhancers	Stomach Smooth Muscle	stomach
32	chr14:25413800-25414400	Enhancers	Stomach Mucosa	stomach
33	chr14:25413800-25422200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:25414000-25414200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:25414000-25414200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr14:25414000-25414400	Weak transcription	Left Ventricle	heart
37	chr14:25414000-25414400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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