Variant report

Variant	rs9323528
Chromosome Location	chr14:70026660-70026661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10145804	0.81[ASN][1000 genomes]
rs2025132	0.85[ASN][1000 genomes]
rs2025133	0.83[ASN][1000 genomes]
rs4899300	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4899301	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4899305	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4902730	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4902733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902734	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4902738	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4902739	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6573893	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6573894	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7140978	0.88[ASN][1000 genomes]
rs7142221	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7143193	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7147881	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7494244	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs927387	0.85[ASN][1000 genomes]
rs9788506	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510642	chr14:69983293-70030335	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv564970	chr14:70000399-70040161	Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv94	chr14:70002365-70030415	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1334	chr14:70002365-70032641	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2760340	chr14:70013752-70032826	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv1828565	chr14:70015485-70026661	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv564980	chr14:70020319-70028547	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv564990	chr14:70020485-70028547	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv1825293	chr14:70020620-70039587	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70025400-70029800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:70025800-70028000	Enhancers	Fetal Brain Male	brain
3	chr14:70025800-70028200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:70025800-70028400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:70026000-70026800	Bivalent Enhancer	Fetal Stomach	stomach
6	chr14:70026000-70027000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:70026000-70027000	Enhancers	Brain Angular Gyrus	brain
8	chr14:70026000-70027000	Enhancers	Brain Cingulate Gyrus	brain
9	chr14:70026000-70028200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:70026200-70026800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:70026200-70026800	Enhancers	HMEC	breast
12	chr14:70026200-70027000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70026200-70027000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:70026200-70027000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:70026200-70027000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:70026200-70027000	Enhancers	Brain Substantia Nigra	brain
17	chr14:70026200-70027200	Enhancers	Brain Anterior Caudate	brain
18	chr14:70026200-70027200	Enhancers	Brain Hippocampus Middle	brain
19	chr14:70026200-70027200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:70026200-70027400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:70026200-70027800	Enhancers	Brain Germinal Matrix	brain
22	chr14:70026400-70026800	Bivalent Enhancer	NHEK	skin
23	chr14:70026400-70028600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:70026600-70026800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:70026600-70028000	Enhancers	Fetal Brain Female	brain

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