Variant report

Variant	rs7105405
Chromosome Location	chr11:93656225-93656226
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	chr11:93654234..93656516-chr11:93799480..93801603,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1573567	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16919533	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55659547	1.00[ASN][1000 genomes]
rs56359140	1.00[ASN][1000 genomes]
rs57856352	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60351354	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60546087	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60550219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67167563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67232024	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67549397	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67812366	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67915626	1.00[ASN][1000 genomes]
rs7109132	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7109819	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72962860	1.00[ASN][1000 genomes]
rs72962872	1.00[ASN][1000 genomes]
rs72962880	1.00[ASN][1000 genomes]
rs72962891	1.00[ASN][1000 genomes]
rs7927828	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7932290	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7934467	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7950356	1.00[ASN][1000 genomes]
rs950878	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888143	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9888156	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9888266	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv508650	chr11:93609010-93713576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv1796911	chr11:93642877-93688134	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7105405	HEPHL1	cis	Artery Tibial	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93655000-93656400	Enhancers	HMEC	breast
2	chr11:93655200-93656400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:93655200-93656800	Enhancers	HepG2	liver
4	chr11:93655600-93656600	Enhancers	Fetal Intestine Small	intestine
5	chr11:93656200-93656400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:93656200-93656600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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