Variant report

Variant	rs4983037
Chromosome Location	chr14:25414339-25414340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10483290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11847172	0.94[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12896213	0.80[GIH][hapmap]
rs17109307	0.83[GIH][hapmap]
rs17109350	0.94[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1951799	0.85[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]
rs1980712	0.85[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]
rs2057499	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28491961	0.81[ASN][1000 genomes]
rs28594628	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28730543	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28892979	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4983037	REM2	cis	parietal	SCAN
rs4983037	PNP	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25396600-25415800	Weak transcription	Fetal Brain Male	brain
2	chr14:25412000-25417600	Weak transcription	HepG2	liver
3	chr14:25412400-25417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:25412600-25417600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:25412600-25422200	Weak transcription	Fetal Lung	lung
6	chr14:25412600-25422200	Weak transcription	Lung	lung
7	chr14:25412600-25422400	Weak transcription	Right Ventricle	heart
8	chr14:25412600-25423600	Weak transcription	Right Atrium	heart
9	chr14:25412600-25426600	Weak transcription	Fetal Intestine Small	intestine
10	chr14:25412600-25426800	Weak transcription	Fetal Intestine Large	intestine
11	chr14:25412800-25417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:25413000-25417600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:25413200-25414800	Enhancers	Brain Anterior Caudate	brain
14	chr14:25413400-25417200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:25413400-25417400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:25413600-25415000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:25413600-25417400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:25413600-25422200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:25413800-25414400	Enhancers	Stomach Mucosa	stomach
20	chr14:25413800-25422200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:25414000-25414400	Weak transcription	Left Ventricle	heart
22	chr14:25414000-25414400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:25414200-25414600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:25414200-25415600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:25414200-25415600	Weak transcription	Brain Substantia Nigra	brain
26	chr14:25414200-25415800	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:25414200-25417400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:25414200-25417600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:25414200-25419000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:25414200-25422200	Weak transcription	Brain Angular Gyrus	brain
31	chr14:25414200-25422400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:25414200-25424400	Weak transcription	Pancreas	Pancrea

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