Variant report

Variant	rs1241640
Chromosome Location	chr14:25352943-25352944
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11158951	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11158952	0.93[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11550670	0.85[MEX][hapmap]
rs1241598	0.87[CEU][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1241641	1.00[ASW][hapmap];0.93[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];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1241642	0.81[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1263222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894282	0.85[MEX][hapmap]
rs17795885	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1958354	0.94[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs854403	0.81[JPT][hapmap]

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	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
6	nsv1041445	chr14:25326692-25388290	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1810592	chr14:25346636-25354756	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1241640	CIDEB	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25344600-25354200	Weak transcription	Fetal Intestine Large	intestine
2	chr14:25346000-25358000	Weak transcription	Fetal Intestine Small	intestine
3	chr14:25349200-25361800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:25349800-25357000	Weak transcription	Right Ventricle	heart
5	chr14:25350200-25354400	Weak transcription	Pancreas	Pancrea
6	chr14:25350400-25353600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:25350600-25354800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:25350600-25364600	Weak transcription	NHDF-Ad	bronchial
9	chr14:25351000-25353400	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:25351000-25353800	Weak transcription	Brain Substantia Nigra	brain
11	chr14:25351000-25354200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:25351000-25354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:25351000-25356800	Weak transcription	HSMM	muscle
14	chr14:25351200-25353600	Weak transcription	HepG2	liver
15	chr14:25351200-25353800	Weak transcription	Brain Angular Gyrus	brain
16	chr14:25351200-25354200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:25351200-25361600	Weak transcription	Fetal Heart	heart
18	chr14:25351200-25361800	Weak transcription	Right Atrium	heart
19	chr14:25351200-25363800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:25351800-25353200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:25351800-25354400	Weak transcription	Left Ventricle	heart
22	chr14:25352400-25353400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:25352600-25353000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:25352600-25354800	Enhancers	Brain Anterior Caudate	brain
25	chr14:25352800-25353000	Enhancers	Psoas Muscle	Psoas

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