Variant report

Variant	rs71459911
Chromosome Location	chr12:4673746-4673747
allele	A/C
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	UBTF	chr12:4673702-4673767	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:4647472..4650149-chr12:4672435..4675119,3	K562	blood:
2	chr12:4673631..4675136-chr12:4679453..4682428,2	K562	blood:
3	chr12:4646395..4648972-chr12:4672435..4674254,2	K562	blood:

Variant related genes	Relation type
DYRK4	TF binding region
ENSG00000047621	Chromatin interaction
ENSG00000111247	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12818485	1.00[ASN][1000 genomes]
rs12831479	1.00[ASN][1000 genomes]
rs16931447	1.00[ASN][1000 genomes]
rs2909376	1.00[ASN][1000 genomes]
rs2970831	1.00[ASN][1000 genomes]
rs2970832	1.00[ASN][1000 genomes]
rs2970833	1.00[ASN][1000 genomes]
rs35711623	1.00[ASN][1000 genomes]
rs35924298	1.00[ASN][1000 genomes]
rs71459907	1.00[ASN][1000 genomes]
rs71459908	1.00[ASN][1000 genomes]
rs71459910	0.81[EUR][1000 genomes]
rs7296957	1.00[ASN][1000 genomes]
rs7302664	1.00[ASN][1000 genomes]
rs7955370	1.00[ASN][1000 genomes]
rs7962626	1.00[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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer 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	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4668400-4673800	Weak transcription	GM12878-XiMat	blood
2	chr12:4670200-4679600	Weak transcription	Hela-S3	cervix
3	chr12:4670400-4675200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:4670400-4679200	Weak transcription	A549	lung
5	chr12:4671600-4676200	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:4671800-4674400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:4671800-4675000	Weak transcription	Lung	lung
8	chr12:4671800-4676400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:4671800-4680400	Weak transcription	HUVEC	blood vessel
10	chr12:4671800-4683400	Weak transcription	Thymus	Thymus
11	chr12:4672000-4673800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:4672000-4674200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:4672000-4674400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:4672000-4675000	Weak transcription	Placenta	Placenta
15	chr12:4672000-4675600	Weak transcription	K562	blood
16	chr12:4672000-4680000	Weak transcription	Brain Anterior Caudate	brain
17	chr12:4672000-4682600	Weak transcription	Spleen	Spleen
18	chr12:4672200-4673800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:4672200-4676400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:4672400-4685000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:4672600-4676400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:4672800-4679600	Weak transcription	Fetal Thymus	thymus
23	chr12:4672800-4680000	Weak transcription	Brain Substantia Nigra	brain
24	chr12:4673000-4674000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:4673000-4676800	Weak transcription	Dnd41	blood
26	chr12:4673200-4674000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:4673400-4692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:4673600-4673800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:4673600-4674000	Enhancers	Primary B cells from cord blood	blood
30	chr12:4673600-4674000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:4673600-4678000	Enhancers	Primary hematopoietic stem cells	blood

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