Variant report

Variant	rs4983036
Chromosome Location	chr14:25407183-25407184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10132498	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10136888	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10145291	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10150527	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10150946	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10162292	0.82[EUR][1000 genomes]
rs10162405	1.00[CEU][hapmap];0.96[GIH][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs10162420	0.82[EUR][1000 genomes]
rs10162424	1.00[CEU][hapmap];0.96[GIH][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs10162457	0.82[EUR][1000 genomes]
rs10162461	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12101204	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12232232	0.90[GIH][hapmap]
rs12886877	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12893349	0.83[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.92[ASN][1000 genomes]
rs17109333	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1957764	0.83[CHD][hapmap];0.96[GIH][hapmap]
rs2057500	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2146915	0.84[CHB][hapmap]
rs2332460	0.89[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.92[ASN][1000 genomes]
rs28466581	0.94[ASN][1000 genomes]
rs28544091	0.82[EUR][1000 genomes]
rs35669399	0.83[EUR][1000 genomes]
rs36053777	0.84[EUR][1000 genomes]
rs4981565	0.84[CHB][hapmap]
rs4983039	0.84[CHB][hapmap]
rs6650491	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6650513	1.00[CEU][hapmap];0.91[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs6650514	0.82[EUR][1000 genomes]
rs6650515	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs71411760	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7157671	0.84[CHB][hapmap]
rs9285592	1.00[CEU][hapmap];0.96[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs9323571	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9323572	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9323573	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs9323574	0.82[EUR][1000 genomes]
rs9323575	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9323576	1.00[CEU][hapmap];0.96[GIH][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs964109	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs964110	0.80[EUR][1000 genomes]
rs9671254	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9783658	0.84[EUR][1000 genomes]
rs9989227	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][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	nsv901508	chr14:25365505-25451903	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	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
6	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
7	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4983036	NFATC4	cis	parietal	SCAN
rs4983036	NRL	cis	parietal	SCAN
rs4983036	RNF31	cis	parietal	SCAN
rs4983036	SLC39A2	cis	cerebellum	SCAN
rs4983036	REM2	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25394800-25410400	Weak transcription	Fetal Muscle Leg	muscle
2	chr14:25395400-25410400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:25396600-25409200	Weak transcription	Left Ventricle	heart
4	chr14:25396600-25415800	Weak transcription	Fetal Brain Male	brain
5	chr14:25398000-25407800	Weak transcription	HSMMtube	muscle
6	chr14:25398200-25409400	Weak transcription	Fetal Lung	lung
7	chr14:25398400-25408600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:25399000-25410600	Weak transcription	Fetal Intestine Small	intestine
9	chr14:25399400-25413800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:25399800-25413400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:25399800-25413600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:25403800-25411400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:25403800-25411800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:25404600-25411800	Weak transcription	Brain Angular Gyrus	brain
15	chr14:25405200-25407200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:25405200-25408400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:25405200-25411800	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:25405200-25411800	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:25405400-25411800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:25405600-25408400	Weak transcription	Fetal Heart	heart
21	chr14:25405600-25409200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:25405600-25409200	Weak transcription	Right Ventricle	heart
23	chr14:25405600-25409800	Weak transcription	Pancreas	Pancrea
24	chr14:25405600-25410800	Weak transcription	HepG2	liver
25	chr14:25405600-25412400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:25406400-25412200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:25406800-25407200	Weak transcription	Brain Anterior Caudate	brain

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