Variant report

Variant	rs7168640
Chromosome Location	chr15:34332969-34332970
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:34332848-34332985	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:34332569-34333265	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:34330080-34333046	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34330950..34333091-chr15:34501411..34503652,2	K562	blood:
2	chr15:34332870..34334555-chr15:34335095..34337616,2	MCF-7	breast:

Variant related genes	Relation type
AVEN	TF binding region
ENSG00000134152	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11072868	0.82[AMR][1000 genomes]
rs11634610	1.00[ASN][1000 genomes]
rs11634771	1.00[ASN][1000 genomes]
rs11635479	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11638109	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12898898	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12903907	0.83[EUR][1000 genomes]
rs12913747	0.82[AMR][1000 genomes]
rs12917116	0.90[EUR][1000 genomes]
rs17817764	1.00[ASN][1000 genomes]
rs2339352	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2684940	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34448088	1.00[ASN][1000 genomes]
rs34474029	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34773983	0.82[AMR][1000 genomes]
rs35531038	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35804445	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4477671	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4779652	0.82[AMR][1000 genomes]
rs4779656	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4779657	1.00[ASN][1000 genomes]
rs4780203	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs541098	0.91[EUR][1000 genomes]
rs62014670	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62014671	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62014673	0.90[EUR][1000 genomes]
rs62014674	1.00[ASN][1000 genomes]
rs6495442	0.85[AMR][1000 genomes]
rs6495443	0.85[AMR][1000 genomes]
rs66530874	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67739072	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71462883	0.82[AMR][1000 genomes]
rs71464844	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162140	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7169003	0.83[AMR][1000 genomes]
rs7173183	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7175823	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7178075	0.82[AMR][1000 genomes]
rs7178446	0.83[AMR][1000 genomes]
rs72718678	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72718682	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8030094	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8033781	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8039219	0.89[EUR][1000 genomes]

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	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
2	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
3	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
4	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
rs7168640	AVEN	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34332000-34333000	Enhancers	Primary hematopoietic stem cells	blood
2	chr15:34332000-34339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:34332200-34333000	Enhancers	Fetal Intestine Large	intestine
4	chr15:34332200-34333800	Enhancers	Fetal Heart	heart
5	chr15:34332200-34337400	Weak transcription	HSMM	muscle
6	chr15:34332200-34339400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:34332400-34333600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:34332400-34335600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:34332400-34335600	Weak transcription	Osteobl	bone
10	chr15:34332400-34335800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:34332400-34337400	Weak transcription	HSMMtube	muscle
12	chr15:34332400-34337600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:34332400-34337600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr15:34332400-34338000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:34332600-34333000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:34332600-34333000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:34332600-34337600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:34332800-34333000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr15:34332800-34333000	Enhancers	GM12878-XiMat	blood
20	chr15:34332800-34335600	Weak transcription	NH-A	brain
21	chr15:34332800-34335800	Weak transcription	HepG2	liver

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