Variant report

Variant	rs16958595
Chromosome Location	chr15:34315025-34315026
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	chr15:34314534..34316475-chr15:34330485..34333173,2	MCF-7	breast:
2	chr15:34314027..34315859-chr15:34326232..34328519,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169857	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10152308	0.84[CHB][hapmap]
rs10152504	0.84[CHB][hapmap]
rs12050519	0.91[MEX][hapmap];0.85[TSI][hapmap]
rs12050692	0.91[MEX][hapmap];0.85[TSI][hapmap]
rs12591066	1.00[ASW][hapmap]
rs16958780	0.81[JPT][hapmap]
rs2018672	0.91[MEX][hapmap];0.85[TSI][hapmap]
rs2303309	1.00[ASW][hapmap]
rs3764238	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs499167	0.84[CHB][hapmap]
rs554303	0.84[CHB][hapmap]
rs563895	0.85[TSI][hapmap]
rs56743146	0.94[ASN][1000 genomes]
rs57987098	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs579975	0.84[CHB][hapmap];0.80[CHD][hapmap]
rs58866635	1.00[ASN][1000 genomes]
rs59502570	0.86[ASN][1000 genomes]
rs60757549	0.86[ASN][1000 genomes]
rs60880416	0.98[ASN][1000 genomes]
rs61153924	0.98[ASN][1000 genomes]
rs61196776	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7494836	0.86[ASN][1000 genomes]
rs8029344	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs8033335	0.83[CHB][hapmap]
rs8035849	0.84[CHB][hapmap];0.80[CHD][hapmap]
rs8037065	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv903985	chr15:34279319-34370487	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16958595	AVEN	cis	lymphoblastoid	seeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34294800-34315600	Weak transcription	Left Ventricle	heart
2	chr15:34304200-34319800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr15:34309000-34317400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:34309400-34316000	Weak transcription	Brain Angular Gyrus	brain
5	chr15:34309400-34330000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:34309600-34330000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr15:34310600-34315800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:34310800-34315800	Weak transcription	Fetal Stomach	stomach
9	chr15:34311000-34318600	Weak transcription	Primary T cells from cord blood	blood
10	chr15:34311200-34315800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:34314200-34326400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:34314400-34316400	Enhancers	Brain Substantia Nigra	brain
13	chr15:34314600-34315200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:34314600-34315800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:34315000-34315200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:34315000-34315200	Enhancers	Aorta	Aorta

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