Variant report

Variant	rs7153837
Chromosome Location	chr14:25472382-25472383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10132357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10138510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10151968	0.86[GIH][hapmap]
rs11628502	0.91[ASN][1000 genomes]
rs11847576	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11849185	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11850786	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11850957	0.83[GIH][hapmap]
rs11851504	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109371	1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17109380	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17109382	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17109397	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109406	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109457	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17109462	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109515	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17109537	0.91[CEU][hapmap];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	0.91[CEU][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs1958383	0.82[EUR][1000 genomes]
rs2094659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522329	0.84[EUR][1000 genomes]
rs57426267	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57614343	0.92[AFR][1000 genomes];0.94[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154613	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155485	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7158164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8004566	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009099	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.94[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	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7153837	STXBP6	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25456000-25472800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr14:25456400-25472800	Weak transcription	Brain Angular Gyrus	brain
3	chr14:25461400-25473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:25461600-25472800	Weak transcription	Pancreas	Pancrea
5	chr14:25461600-25472800	Weak transcription	Right Atrium	heart
6	chr14:25463200-25476600	Weak transcription	Placenta	Placenta
7	chr14:25464600-25472800	Weak transcription	Right Ventricle	heart
8	chr14:25466600-25472800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:25466800-25473400	Weak transcription	Fetal Intestine Small	intestine
10	chr14:25468000-25476000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:25470600-25472600	Weak transcription	Brain Anterior Caudate	brain
12	chr14:25470600-25472800	Weak transcription	Osteobl	bone
13	chr14:25470600-25475600	Weak transcription	NH-A	brain
14	chr14:25470800-25472400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:25470800-25472400	Weak transcription	HepG2	liver
16	chr14:25470800-25472400	Weak transcription	HSMMtube	muscle
17	chr14:25470800-25472800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:25470800-25475600	Weak transcription	Fetal Lung	lung
19	chr14:25470800-25475800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:25470800-25475800	Weak transcription	NHLF	lung
21	chr14:25471000-25472400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:25471200-25472600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:25471200-25473800	Weak transcription	Stomach Mucosa	stomach
24	chr14:25471200-25476200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:25471400-25472400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:25471400-25472400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:25471400-25472400	Weak transcription	Adipose Nuclei	Adipose
28	chr14:25471400-25472600	Weak transcription	NHDF-Ad	bronchial
29	chr14:25471400-25472800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:25471400-25472800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:25471400-25473000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:25471600-25474200	Enhancers	Left Ventricle	heart
33	chr14:25472200-25473000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:25472200-25473400	Enhancers	Fetal Muscle Leg	muscle
35	chr14:25472200-25473800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:25472200-25473800	Enhancers	Fetal Heart	heart
37	chr14:25472200-25474000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:25472200-25476200	Enhancers	HSMM	muscle

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