Variant report

Variant	rs11038415
Chromosome Location	chr11:45392426-45392427
allele	C/T
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	RAD21	chr11:45392400-45393735	SK-N-SH	brain:	n/a	chr11:45393469-45393479 chr11:45392850-45392864 chr11:45392930-45392949 chr11:45392931-45392945
2	CTCF	chr11:45392156-45393380	SK-N-SH	brain:	n/a	chr11:45392930-45392946 chr11:45392929-45392947 chr11:45392931-45392952 chr11:45392850-45392863 chr11:45392932-45392945
3	SMC3	chr11:45392373-45393483	SK-N-SH	brain:	n/a	chr11:45393218-45393228 chr11:45393469-45393479 chr11:45392931-45392945
4	CTCF	chr11:45392400-45392550	HVMF	connective:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45382525..45384893-chr11:45390829..45392427,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255267	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10838458	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11601710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12365508	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12418562	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs1530872	0.98[ASN][1000 genomes]
rs17788257	0.86[ASN][1000 genomes]
rs1868910	0.91[ASN][1000 genomes]
rs1989168	0.96[ASN][1000 genomes]
rs2242043	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs34755629	0.94[ASN][1000 genomes]
rs35345891	0.99[ASN][1000 genomes]
rs35864917	0.98[ASN][1000 genomes]
rs6485623	0.98[ASN][1000 genomes]
rs7127704	0.94[ASN][1000 genomes]
rs7130052	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7925979	0.98[ASN][1000 genomes]
rs7930779	0.98[ASN][1000 genomes]
rs7931345	0.87[ASN][1000 genomes]
rs7945142	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv467869	chr11:45389225-45415035	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv554185	chr11:45389225-45415035	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11038415	ACP2	cis	cerebellum	SCAN
rs11038415	DGKZ	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45388400-45395800	Weak transcription	Liver	Liver
2	chr11:45388800-45392600	Weak transcription	Brain Anterior Caudate	brain
3	chr11:45389000-45392600	Weak transcription	Spleen	Spleen
4	chr11:45389400-45392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:45389600-45392600	Weak transcription	Lung	lung
6	chr11:45391400-45392600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:45391400-45392600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:45391400-45392600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:45391400-45392600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:45391600-45392800	Weak transcription	Ovary	ovary
11	chr11:45391800-45392800	Weak transcription	Fetal Brain Female	brain
12	chr11:45391800-45393000	Weak transcription	Fetal Brain Male	brain
13	chr11:45392200-45392600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr11:45392200-45393000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:45392200-45393200	Enhancers	Brain Angular Gyrus	brain
16	chr11:45392400-45392800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr11:45392400-45393000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:45392400-45393000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:45392400-45393000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr11:45392400-45393400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr11:45392400-45393400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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