Variant report

Variant	rs8004566
Chromosome Location	chr14:25480235-25480236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr14:25480067-25480955	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr14:25480206-25480777	H1-neurons	neurons:	n/a	n/a
3	REST	chr14:25480191-25480853	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
STXBP6	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10132357	0.91[ASN][1000 genomes]
rs10138510	0.91[ASN][1000 genomes]
rs11628502	0.91[ASN][1000 genomes]
rs11847576	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11849185	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11850786	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11851504	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109371	0.91[ASN][1000 genomes]
rs17109380	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17109382	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17109397	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109406	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109457	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17109462	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109515	0.87[EUR][1000 genomes]
rs17109537	0.84[EUR][1000 genomes]
rs1952491	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952499	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1958381	0.82[EUR][1000 genomes]
rs1958383	0.82[EUR][1000 genomes]
rs2094659	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28625718	0.91[ASN][1000 genomes]
rs28722832	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35106416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522329	0.84[EUR][1000 genomes]
rs57426267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57614343	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58424382	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58590969	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142073	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7152812	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153837	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154613	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155485	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7158164	0.94[ASN][1000 genomes]
rs8008618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009099	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019222	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs987056	0.93[EUR][1000 genomes];0.87[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	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
5	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
6	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
7	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25475200-25480800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:25476400-25485000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:25477200-25483400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:25478600-25480800	Enhancers	Fetal Intestine Large	intestine
5	chr14:25478600-25480800	Enhancers	NHEK	skin
6	chr14:25478800-25480600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:25478800-25480800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr14:25478800-25481000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:25478800-25481000	Enhancers	Fetal Intestine Small	intestine
10	chr14:25479000-25480600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr14:25479000-25480800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:25479000-25480800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr14:25479200-25480800	Enhancers	Fetal Heart	heart
14	chr14:25479200-25488400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:25479400-25480400	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:25479400-25480400	Enhancers	HSMM	muscle
17	chr14:25479400-25480600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:25479400-25480600	Enhancers	Hela-S3	cervix
19	chr14:25479400-25483400	Weak transcription	Pancreas	Pancrea
20	chr14:25479400-25483800	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:25479400-25483800	Weak transcription	Fetal Lung	lung
22	chr14:25479400-25508600	Weak transcription	Brain Anterior Caudate	brain
23	chr14:25479600-25480600	Enhancers	HSMMtube	muscle
24	chr14:25479600-25494800	Weak transcription	Stomach Mucosa	stomach
25	chr14:25479800-25501000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:25480000-25480600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr14:25480000-25482600	Weak transcription	HepG2	liver
28	chr14:25480000-25483400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:25480000-25483400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:25480000-25483400	Weak transcription	Left Ventricle	heart
31	chr14:25480000-25484400	Weak transcription	Right Ventricle	heart
32	chr14:25480000-25485000	Weak transcription	Brain Angular Gyrus	brain
33	chr14:25480000-25490000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:25480000-25490000	Weak transcription	Right Atrium	heart
35	chr14:25480200-25480800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:25480200-25480800	Enhancers	Adipose Nuclei	Adipose

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