Variant report

Variant	rs9396253
Chromosome Location	chr6:56885365-56885366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56882958..56887865-chr6:56889010..56894345,6	K562	blood:
2	chr6:56876462..56883881-chr6:56884128..56888992,9	K562	blood:
3	chr6:56883885..56886114-chr6:56933093..56934957,2	K562	blood:
4	chr6:56818643..56821587-chr6:56882512..56885924,5	K562	blood:
5	chr6:56813824..56816649-chr6:56884972..56886715,2	K562	blood:
6	chr6:56885077..56887433-chr6:56918362..56920349,2	K562	blood:
7	chr6:56881940..56886581-chr6:56889010..56894702,6	K562	blood:

Variant related genes	Relation type
ENSG00000151917	Chromatin interaction
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1007417	0.84[EUR][1000 genomes]
rs1016048	0.81[EUR][1000 genomes]
rs12154043	0.81[EUR][1000 genomes]
rs1451709	0.84[EUR][1000 genomes]
rs1562908	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1597694	0.84[EUR][1000 genomes]
rs17685356	0.84[EUR][1000 genomes]
rs2006930	0.83[EUR][1000 genomes]
rs2167460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34589109	0.84[EUR][1000 genomes]
rs34703235	0.84[EUR][1000 genomes]
rs34896907	0.84[EUR][1000 genomes]
rs35553446	0.81[EUR][1000 genomes]
rs62417384	0.82[EUR][1000 genomes]
rs62417410	0.84[EUR][1000 genomes]
rs6901192	0.84[EUR][1000 genomes]
rs6901660	0.82[EUR][1000 genomes]
rs6915492	0.84[EUR][1000 genomes]
rs6924882	0.84[EUR][1000 genomes]
rs6925107	0.81[EUR][1000 genomes]
rs6935636	0.84[EUR][1000 genomes]
rs720885	0.83[EUR][1000 genomes]
rs7741507	0.82[EUR][1000 genomes]
rs7760435	0.82[EUR][1000 genomes]
rs9296859	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357934	0.82[EUR][1000 genomes]
rs9370552	0.84[EUR][1000 genomes]
rs9382669	0.81[EUR][1000 genomes]
rs9382672	0.81[EUR][1000 genomes]
rs9382674	0.84[EUR][1000 genomes]
rs9382675	0.84[EUR][1000 genomes]
rs9382676	0.80[EUR][1000 genomes]
rs9396246	0.84[EUR][1000 genomes]
rs9396249	0.84[EUR][1000 genomes]
rs9396250	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9475758	0.81[EUR][1000 genomes]
rs9475760	0.82[EUR][1000 genomes]
rs9475763	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9396253	BEND6	cis	Artery Tibial	GTEx
rs9396253	BEND6	cis	Muscle Skeletal	GTEx
rs9396253	KIAA1586	Cis_1M	lymphoblastoid	RTeQTL
rs9396253	BEND6	cis	Heart Left Ventricle	GTEx
rs9396253	BEND6	cis	lung	GTEx
rs9396253	BEND6	cis	Esophagus Muscularis	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56858600-56889400	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:56864600-56890200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:56878600-56885800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:56878600-56905400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:56879000-56891600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:56880800-56888400	Weak transcription	Aorta	Aorta
7	chr6:56883400-56886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:56883400-56888800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:56885000-56887800	Weak transcription	K562	blood

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