Variant report

Variant	rs4983023
Chromosome Location	chr14:25324663-25324664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11158959	0.87[MEX][hapmap]
rs12432022	0.95[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1461642	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17200659	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17200666	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17795604	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1957760	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2199394	0.83[AMR][1000 genomes]
rs2199395	0.83[AMR][1000 genomes]
rs4983024	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976829	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61976831	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs725230	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8019575	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs854314	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs965383	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][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	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	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv901506	chr14:25295551-25377188	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4983023	METTL3	cis	parietal	SCAN
rs4983023	OR10G2	cis	cerebellum	SCAN
rs4983023	RNASE7	cis	parietal	SCAN
rs4983023	SLC7A8	cis	cerebellum	SCAN
rs4983023	REM2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25309000-25328000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:25314600-25333600	Weak transcription	Lung	lung
3	chr14:25315600-25330400	Weak transcription	Brain Angular Gyrus	brain
4	chr14:25316000-25330400	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:25317800-25344000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:25318000-25328400	Weak transcription	Right Ventricle	heart
7	chr14:25318200-25330200	Weak transcription	Fetal Heart	heart
8	chr14:25319000-25330400	Weak transcription	Adipose Nuclei	Adipose
9	chr14:25319600-25344600	Weak transcription	NHDF-Ad	bronchial
10	chr14:25320000-25326000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:25320000-25330200	Weak transcription	HSMMtube	muscle
12	chr14:25321000-25328200	Weak transcription	NH-A	brain
13	chr14:25321200-25325200	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr14:25321400-25330200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:25321600-25325400	Strong transcription	HepG2	liver
16	chr14:25321600-25328200	Weak transcription	Brain Anterior Caudate	brain
17	chr14:25321600-25333600	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:25321800-25326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:25321800-25327000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:25322000-25330400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:25322400-25326200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:25322600-25326200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:25322600-25326400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:25322600-25326800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:25322600-25328400	Weak transcription	Psoas Muscle	Psoas
26	chr14:25322800-25326200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:25322800-25326200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:25322800-25327200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:25323000-25324800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:25323000-25326400	Strong transcription	Fetal Lung	lung
31	chr14:25323400-25325600	Strong transcription	HSMM	muscle
32	chr14:25323400-25330200	Weak transcription	Fetal Intestine Large	intestine
33	chr14:25323600-25326200	Weak transcription	Colonic Mucosa	Colon
34	chr14:25323600-25327000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:25323600-25330200	Weak transcription	Fetal Intestine Small	intestine
36	chr14:25323600-25333600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:25323800-25326200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:25323800-25326400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:25324000-25330400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:25324000-25330600	Weak transcription	Pancreas	Pancrea
41	chr14:25324200-25325000	Weak transcription	Left Ventricle	heart
42	chr14:25324400-25326000	Weak transcription	Placenta	Placenta
43	chr14:25324400-25330800	Weak transcription	Stomach Smooth Muscle	stomach

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