Variant report

Variant	rs12576766
Chromosome Location	chr11:65488556-65488557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:65487230-65488675	IMR90	lung:	n/a	n/a
2	ELF1	chr11:65487289-65488599	MCF-7	breast:	n/a	chr11:65488005-65488017
3	CREB1	chr11:65487390-65488580	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:65483145-65488647	PFSK-1	brain:	n/a	n/a
5	HCFC1	chr11:65486232-65488600	Hela-S3	cervix:	n/a	n/a
6	ELF1	chr11:65487761-65488639	MCF-7	breast:	n/a	chr11:65488005-65488017
7	REST	chr11:65487706-65488612	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr11:65483349-65488585	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65484089..65489445-chr11:65545173..65550834,9	K562	blood:
2	chr11:65487520..65489937-chr11:65492095..65496093,4	MCF-7	breast:
3	chr11:65485004..65489716-chr11:65621545..65626984,9	K562	blood:
4	chr11:65482499..65489390-chr11:65622947..65628870,15	MCF-7	breast:
5	chr11:65487808..65489743-chr11:65627431..65628962,2	K562	blood:
6	chr11:65484089..65489642-chr11:65545405..65550834,8	K562	blood:
7	chr11:65486247..65489385-chr11:65493532..65496912,4	MCF-7	breast:
8	chr11:65488196..65490800-chr11:65684778..65687737,2	MCF-7	breast:
9	chr11:65485735..65490975-chr11:65621882..65626984,8	K562	blood:
10	chr11:65479740..65480470-chr11:65488027..65488887,2	MCF-7	breast:
11	chr11:65487463..65490934-chr11:65492571..65495479,8	K562	blood:
12	chr11:65487099..65491310-chr11:65543476..65547938,6	MCF-7	breast:
13	chr11:65485673..65489789-chr11:65654054..65658887,6	K562	blood:
14	chr11:65487717..65490491-chr11:65548061..65551683,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNASEH2C	TF binding region
ENSG00000172500	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000214659	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175550	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1073602	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1074155	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1074156	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10791822	0.89[ASN][1000 genomes]
rs10896025	0.88[ASN][1000 genomes]
rs10896026	0.88[ASN][1000 genomes]
rs10896028	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10896032	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896033	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896034	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10896035	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11227251	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227254	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11568300	0.89[ASN][1000 genomes]
rs11601509	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12289836	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12802391	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1466462	0.89[ASN][1000 genomes]
rs2236682	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28464085	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4645927	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4645933	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60626743	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61893835	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61895665	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6591185	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6591187	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591188	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7115734	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7120713	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7123489	0.82[ASN][1000 genomes]
rs746429	0.82[ASN][1000 genomes]
rs7924510	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7930301	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7947604	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7952133	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9666878	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[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	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	esv3343642	chr11:65487401-65489949	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65487400-65488600	Active TSS	GM12878-XiMat	blood
2	chr11:65487400-65488600	Active TSS	NHEK	skin
3	chr11:65488400-65488600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr11:65488400-65488600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr11:65488400-65488600	Flanking Active TSS	HSMM	muscle
6	chr11:65488400-65488800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:65488400-65488800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:65488400-65488800	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:65488400-65488800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:65488400-65489400	Enhancers	Dnd41	blood
11	chr11:65488400-65490600	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:65488400-65490600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:65488400-65491600	Weak transcription	Right Atrium	heart
14	chr11:65488400-65492400	Weak transcription	Placenta	Placenta
15	chr11:65488400-65494200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:65488400-65496200	Weak transcription	Brain Cingulate Gyrus	brain

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