Variant report

Variant	rs12636145
Chromosome Location	chr3:87846871-87846872
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	POLR2A	chr3:87846182-87847590	K562	blood:	n/a	n/a
2	ARID3A	chr3:87846361-87847423	K562	blood:	n/a	n/a
3	BHLHE40	chr3:87846439-87847356	K562	blood:	n/a	n/a
4	IRF1	chr3:87844765-87846951	K562	blood:	n/a	chr3:87845161-87845172 chr3:87846674-87846687
5	IRF1	chr3:87844974-87847445	K562	blood:	n/a	chr3:87845161-87845172 chr3:87846674-87846687
6	MYC	chr3:87846598-87847678	K562	blood:	n/a	n/a
7	JUND	chr3:87846762-87848107	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:87845525..87848228-chr3:87871993..87873515,2	K562	blood:

Variant related genes	Relation type
ENSG00000239572	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1021338	0.84[ASN][1000 genomes]
rs11128008	0.85[AMR][1000 genomes]
rs12489455	0.84[ASN][1000 genomes]
rs12491283	0.84[ASN][1000 genomes]
rs12491978	0.84[ASN][1000 genomes]
rs12492131	0.84[ASN][1000 genomes]
rs12629896	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12629921	0.84[ASN][1000 genomes]
rs12636188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025082	0.84[ASN][1000 genomes]
rs1847313	0.84[ASN][1000 genomes]
rs1875716	0.82[ASN][1000 genomes]
rs1910399	0.84[ASN][1000 genomes]
rs1910401	0.84[ASN][1000 genomes]
rs2010883	0.84[ASN][1000 genomes]
rs2171819	0.84[ASN][1000 genomes]
rs2343771	0.84[ASN][1000 genomes]
rs55776072	0.84[ASN][1000 genomes]
rs57688062	0.84[ASN][1000 genomes]
rs57777775	0.87[ASN][1000 genomes]
rs57850268	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58460783	0.84[ASN][1000 genomes]
rs59504854	0.84[ASN][1000 genomes]
rs60057665	0.84[ASN][1000 genomes]
rs72911684	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590918	chr3:87323334-87910931	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv877142	chr3:87630433-87854277	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv877143	chr3:87630433-87860130	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv834756	chr3:87763793-87938179	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1009981	chr3:87821573-88003956	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv536634	chr3:87821573-88003956	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87842600-87851000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:87843000-87850400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:87843200-87847200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:87843200-87848200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:87844600-87847600	Enhancers	Thymus	Thymus
6	chr3:87845600-87847000	Active TSS	K562	blood
7	chr3:87845600-87855800	Weak transcription	A549	lung
8	chr3:87846200-87847000	Weak transcription	NHDF-Ad	bronchial
9	chr3:87846200-87848600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:87846800-87847000	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr3:87846800-87848000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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