Variant report

Variant	rs13324553
Chromosome Location	chr3:196256275-196256276
allele	A/G
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	MYC	chr3:196255714-196256281	H1-hESC	embryonic stem cell:	n/a	chr3:196255768-196255778
2	MAX	chr3:196255355-196256294	H1-hESC	embryonic stem cell:	n/a	chr3:196255768-196255778
3	MAX	chr3:196255359-196256357	ECC-1	luminal epithelium:	n/a	chr3:196255768-196255778
4	MYC	chr3:196255423-196256390	A549	lung:	n/a	chr3:196255768-196255778
5	MAX	chr3:196255337-196256392	A549	lung:	n/a	chr3:196255768-196255778
6	MAX	chr3:196255348-196256378	A549	lung:	n/a	chr3:196255768-196255778
7	FOXM1	chr3:196255343-196256378	GM12878	blood:	n/a	n/a
8	PML	chr3:196255325-196256354	GM12878	blood:	n/a	n/a
9	MAX	chr3:196255352-196256367	H1-hESC	embryonic stem cell:	n/a	chr3:196255768-196255778
10	E2F6	chr3:196255349-196256307	H1-hESC	embryonic stem cell:	n/a	n/a
11	MTA3	chr3:196253937-196256337	GM12878	blood:	n/a	n/a
12	RUNX3	chr3:196255340-196256297	GM12878	blood:	n/a	n/a
13	TAF1	chr3:196255386-196256302	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr3:196255381-196256287	SK-N-SH	brain:	n/a	chr3:196255804-196255814 chr3:196255801-196255822 chr3:196255799-196255817 chr3:196255802-196255811 chr3:196255802-196255815 chr3:196255800-196255816
15	MAX	chr3:196255346-196256388	ECC-1	luminal epithelium:	n/a	chr3:196255768-196255778
16	MAX	chr3:196255295-196256308	K562	blood:	n/a	chr3:196255768-196255778

No.	Distal block	Cell Line	Cell type
1	chr3:196255847..196257386-chr3:196258042..196259736,2	K562	blood:
2	chr3:196256161..196258793-chr3:196292784..196296820,3	MCF-7	breast:
3	chr3:196255773..196256767-chr3:196411387..196411995,2	K562	blood:

Variant related genes	Relation type
ENSG00000213358	TF binding region
ENSG00000185798	Chromatin interaction
ENSG00000174013	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9818888	1.00[ASN][1000 genomes]
rs9826395	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	esv2763750	chr3:196242261-196278366	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv967108	chr3:196255474-196263970	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196255400-196256400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:196255400-196256400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:196255400-196256400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr3:196255600-196256400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:196255600-196256400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:196255800-196256400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr3:196255800-196256400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:196255800-196256400	Enhancers	Placenta	Placenta
9	chr3:196255800-196260400	Weak transcription	HepG2	liver
10	chr3:196256000-196256400	Flanking Active TSS	GM12878-XiMat	blood
11	chr3:196256000-196256400	Active TSS	NH-A	brain
12	chr3:196256200-196256400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:196256200-196256400	Enhancers	Primary B cells from peripheral blood	blood
14	chr3:196256200-196256400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr3:196256200-196256400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr3:196256200-196256400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:196256200-196256400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:196256200-196259600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:196256200-196260000	Weak transcription	K562	blood
20	chr3:196256200-196260800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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