Variant report

Variant	rs11071165
Chromosome Location	chr15:55400961-55400962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:54268702..54269681-chr15:55400788..55401575,2	MCF-7	breast:
2	chr15:55400894..55401490-chr15:65197977..65198492,2	MCF-7	breast:
3	chr15:54375029..54375976-chr15:55400805..55401778,3	MCF-7	breast:
4	chr15:54374868..54376175-chr15:55400827..55401744,4	MCF-7	breast:
5	chr15:54254831..54255689-chr15:55400781..55401468,2	MCF-7	breast:
6	chr15:55400665..55401788-chr15:55460662..55461217,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259669	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10444800	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10444801	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10518801	0.80[EUR][1000 genomes]
rs11071166	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11071168	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11071172	0.80[EUR][1000 genomes]
rs11071173	0.80[EUR][1000 genomes]
rs12911537	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2437110	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2572029	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2572030	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2572034	0.85[EUR][1000 genomes]
rs2641583	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28797222	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4375602	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4774202	0.97[ASN][1000 genomes]
rs486913	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs489055	0.82[EUR][1000 genomes]
rs489105	0.81[EUR][1000 genomes]
rs491004	0.82[EUR][1000 genomes]
rs508482	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs549231	0.82[EUR][1000 genomes]
rs551093	0.82[EUR][1000 genomes]
rs559069	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62018202	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7178925	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv457156	chr15:55400649-55466155	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv569521	chr15:55400649-55466155	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11071165	RAB27A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55399800-55401000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:55400200-55401000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:55400200-55401000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:55400400-55401000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:55400400-55401000	Enhancers	Brain Germinal Matrix	brain
6	chr15:55400400-55401000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr15:55400400-55401000	Enhancers	Fetal Kidney	kidney
8	chr15:55400400-55401800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:55400400-55401800	Enhancers	K562	blood
10	chr15:55400600-55401000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:55400600-55401000	Enhancers	Fetal Muscle Leg	muscle
12	chr15:55400600-55401600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:55400600-55401800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:55400600-55402600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:55400800-55401400	Enhancers	NHEK	skin
16	chr15:55400800-55401600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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