Variant report

Variant	rs2842337
Chromosome Location	chr14:69001320-69001321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69000957..69002671-chr14:69010193..69012853,2	MCF-7	breast:
2	chr14:68772101..68775016-chr14:68999200..69001646,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11845281	1.00[CEU][hapmap]
rs11846166	1.00[CEU][hapmap]
rs17105601	1.00[MEX][hapmap]
rs17105822	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[ASN][1000 genomes]
rs17105879	1.00[MEX][hapmap]
rs2428615	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2525502	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs2525515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2525516	1.00[ASN][1000 genomes]
rs2525517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525519	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525520	0.94[ASN][1000 genomes]
rs2525529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2842324	1.00[MEX][hapmap]
rs2842332	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2842335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2842336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573841	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs7158636	1.00[MEX][hapmap]
rs727392	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7359118	1.00[MEX][hapmap]
rs8005466	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1048064	chr14:68991041-69012766	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv521761	chr14:68996466-69001320	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2842337	ACTN1	cis	lymphoblastoid	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68994400-69001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:68996200-69002600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:68996200-69007800	Weak transcription	Stomach Mucosa	stomach
4	chr14:68998200-69002200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:69000000-69002400	Enhancers	NHDF-Ad	bronchial
6	chr14:69000000-69003000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:69000400-69002000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:69000800-69002600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:69001200-69001400	Enhancers	HSMM	muscle
10	chr14:69001200-69001400	Enhancers	HSMMtube	muscle
11	chr14:69001200-69003600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:69001200-69003600	Enhancers	HMEC	breast

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