Variant report

Variant	rs7497393
Chromosome Location	chr15:75175457-75175458
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75135788..75137937-chr15:75174373..75175874,2	MCF-7	breast:
2	chr15:75121491..75123430-chr15:75173569..75176195,2	MCF-7	breast:
3	chr15:75173720..75176445-chr15:75197649..75200456,2	MCF-7	breast:
4	chr15:75174495..75176900-chr15:75180794..75183438,2	K562	blood:

Variant related genes	Relation type
ENSG00000178761	Chromatin interaction
ENSG00000178802	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11072511	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs11072512	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11072513	0.96[CEU][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11072514	0.96[CEU][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1127796	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1130741	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1133322	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1133323	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11630592	0.83[EUR][1000 genomes]
rs11630918	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11633472	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11638130	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11639413	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11854704	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs11856413	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11857695	0.90[EUR][1000 genomes]
rs12487	0.92[CEU][hapmap]
rs12899787	0.83[EUR][1000 genomes]
rs12900662	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12901190	0.96[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12902515	0.90[EUR][1000 genomes]
rs12903205	0.90[EUR][1000 genomes]
rs12903370	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12904326	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12904897	0.85[EUR][1000 genomes]
rs12907898	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12908365	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12909335	0.96[CEU][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12911254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12912839	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12913293	0.87[EUR][1000 genomes]
rs2044157	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2290573	0.86[JPT][hapmap]
rs2415251	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4480762	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4643278	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4886608	0.88[EUR][1000 genomes]
rs4886632	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4886636	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs4886639	0.80[EUR][1000 genomes]
rs4886640	0.86[EUR][1000 genomes]
rs59945415	0.83[EUR][1000 genomes]
rs62029167	0.84[EUR][1000 genomes]
rs6495122	0.88[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap]
rs7495664	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7495739	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7497026	0.81[EUR][1000 genomes]
rs8025447	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904381	chr15:75108636-75242155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7497393	COX5A	Cis_1M	lymphoblastoid	RTeQTL
rs7497393	SCAMP2	cis	Whole Blood	GTEx
rs7497393	MPI	Cis_1M	lymphoblastoid	RTeQTL
rs7497393	SCAMP5	cis	Artery Tibial	GTEx
rs7497393	SCAMP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75166200-75181000	Weak transcription	Fetal Heart	heart
2	chr15:75166600-75176400	Weak transcription	A549	lung
3	chr15:75174400-75175600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:75175000-75175600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr15:75175000-75177400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:75175200-75181000	Weak transcription	Spleen	Spleen
7	chr15:75175400-75176200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:75175400-75181200	Weak transcription	H9 Cell Line	embryonic stem cell

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