Variant report

Variant	rs1241636
Chromosome Location	chr14:25354440-25354441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1241605	0.91[JPT][hapmap]
rs1241608	0.91[JPT][hapmap]
rs1241615	0.91[JPT][hapmap]
rs1241616	0.91[JPT][hapmap]
rs1241617	0.91[JPT][hapmap]
rs1241618	0.91[JPT][hapmap]
rs1241619	0.91[JPT][hapmap]
rs1241620	0.91[JPT][hapmap]
rs1241621	0.91[JPT][hapmap]
rs1241622	0.91[JPT][hapmap]
rs1241625	0.91[JPT][hapmap]
rs1241627	0.89[JPT][hapmap]
rs1241629	0.91[JPT][hapmap]
rs1241631	0.91[JPT][hapmap]
rs1241632	0.91[JPT][hapmap]
rs1241633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1241634	0.95[JPT][hapmap]
rs1241635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1241637	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241638	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1312629	0.91[JPT][hapmap]
rs1312630	0.91[JPT][hapmap]
rs1312631	0.91[JPT][hapmap]
rs1312632	0.91[JPT][hapmap]
rs2332448	0.91[JPT][hapmap]
rs2332449	0.91[JPT][hapmap]
rs6574078	0.91[JPT][hapmap]
rs6574079	0.91[JPT][hapmap]
rs7143584	0.91[JPT][hapmap]
rs8017040	0.91[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1241636	TM9SF1	cis	parietal	SCAN
rs1241636	METTL3	cis	parietal	SCAN
rs1241636	SLC22A17	cis	cerebellum	SCAN
rs1241636	CHD8	cis	cerebellum	SCAN
rs1241636	NYNRIN	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25346000-25358000	Weak transcription	Fetal Intestine Small	intestine
2	chr14:25349200-25361800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:25349800-25357000	Weak transcription	Right Ventricle	heart
4	chr14:25350600-25354800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:25350600-25364600	Weak transcription	NHDF-Ad	bronchial
6	chr14:25351000-25354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:25351000-25356800	Weak transcription	HSMM	muscle
8	chr14:25351200-25361600	Weak transcription	Fetal Heart	heart
9	chr14:25351200-25361800	Weak transcription	Right Atrium	heart
10	chr14:25351200-25363800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:25352600-25354800	Enhancers	Brain Anterior Caudate	brain
12	chr14:25353600-25357200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:25353600-25358600	Enhancers	HepG2	liver
14	chr14:25353800-25355400	Enhancers	Brain Angular Gyrus	brain
15	chr14:25353800-25355600	Enhancers	Brain Substantia Nigra	brain
16	chr14:25354000-25355200	Enhancers	Brain Hippocampus Middle	brain
17	chr14:25354200-25355200	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:25354200-25355400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr14:25354200-25355400	Enhancers	Fetal Intestine Large	intestine
20	chr14:25354400-25354800	Enhancers	Left Ventricle	heart
21	chr14:25354400-25354800	Enhancers	Pancreas	Pancrea

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