Variant report

Variant	rs928074
Chromosome Location	chr14:25578717-25578718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10134566	0.90[ASN][1000 genomes]
rs10140833	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10147992	0.86[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap]
rs11159034	0.88[CHD][hapmap]
rs11846085	0.92[ASN][1000 genomes]
rs11846310	0.95[ASN][1000 genomes]
rs11847320	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11847556	0.99[ASN][1000 genomes]
rs12433556	0.96[ASN][1000 genomes]
rs1952497	0.96[ASN][1000 genomes]
rs1952498	0.96[ASN][1000 genomes]
rs1952505	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1952508	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2004925	0.81[CHD][hapmap]
rs2038700	0.81[ASW][hapmap]
rs2332462	0.84[CHD][hapmap]
rs2332466	0.94[ASN][1000 genomes]
rs2332484	0.92[ASN][1000 genomes]
rs28445295	0.95[ASN][1000 genomes]
rs56396822	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59800591	0.96[ASN][1000 genomes]
rs6574126	0.83[CHD][hapmap]
rs6574177	0.94[ASN][1000 genomes]
rs7141943	0.81[CHD][hapmap]
rs7154660	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8019648	0.94[ASN][1000 genomes]
rs8021458	0.93[ASN][1000 genomes]
rs873102	0.81[ASW][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.82[YRI][hapmap]
rs912304	0.88[CHD][hapmap]
rs9743584	0.97[ASN][1000 genomes]
rs974845	0.95[ASN][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	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
2	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
3	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3490801	chr14:25560793-25675699	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3490802	chr14:25560793-25675699	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs928074	CHD8	cis	cerebellum	SCAN
rs928074	RNF31	cis	parietal	SCAN
rs928074	STXBP6	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25577600-25578800	Enhancers	Fetal Muscle Leg	muscle
2	chr14:25577600-25579200	Enhancers	NHDF-Ad	bronchial
3	chr14:25577600-25579800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:25577600-25580000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr14:25577600-25580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:25577600-25580200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:25577600-25581200	Enhancers	Fetal Heart	heart
8	chr14:25577800-25578800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr14:25577800-25578800	Enhancers	Colon Smooth Muscle	Colon
10	chr14:25577800-25579200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:25577800-25579200	Enhancers	Fetal Intestine Large	intestine
12	chr14:25577800-25579600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:25577800-25579600	Enhancers	Brain Anterior Caudate	brain
14	chr14:25577800-25580200	Enhancers	HSMM	muscle
15	chr14:25577800-25580400	Enhancers	HSMMtube	muscle
16	chr14:25577800-25580800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:25577800-25580800	Enhancers	Brain Hippocampus Middle	brain
18	chr14:25577800-25581200	Enhancers	NHLF	lung
19	chr14:25577800-25582600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr14:25578000-25578800	Enhancers	Fetal Lung	lung
21	chr14:25578000-25579200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:25578000-25579400	Enhancers	Fetal Intestine Small	intestine
23	chr14:25578000-25580200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:25578000-25580400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:25578000-25580600	Enhancers	Osteobl	bone
26	chr14:25578000-25580800	Enhancers	Brain Substantia Nigra	brain
27	chr14:25578000-25581200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:25578200-25578800	Enhancers	NH-A	brain
29	chr14:25578200-25579600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:25578200-25580600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:25578400-25579400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:25578400-25579600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:25578400-25579600	Weak transcription	Brain Angular Gyrus	brain
34	chr14:25578400-25580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:25578400-25580600	Weak transcription	Right Atrium	heart
36	chr14:25578400-25580800	Enhancers	Brain Cingulate Gyrus	brain
37	chr14:25578400-25583400	Weak transcription	Psoas Muscle	Psoas
38	chr14:25578600-25580200	Weak transcription	Pancreas	Pancrea
39	chr14:25578600-25580600	Weak transcription	Left Ventricle	heart
40	chr14:25578600-25580600	Weak transcription	Right Ventricle	heart
41	chr14:25578600-25580600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:25578600-25582000	Weak transcription	Stomach Mucosa	stomach
43	chr14:25578600-25583600	Weak transcription	Gastric	stomach

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