Variant report

Variant	rs9483493
Chromosome Location	chr6:132991356-132991357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:132990659-132991441	HCT-116	colon:	n/a	n/a
2	CTCF	chr6:132990441-132991450	SK-N-SH	brain:	n/a	chr6:132990944-132990965
3	ZNF263	chr6:132990748-132991542	HEK293-T-REx	kidney:	n/a	n/a
4	CTCF	chr6:132990603-132991407	A549	lung:	n/a	chr6:132990944-132990965
5	CTCF	chr6:132991240-132991390	SK-N-SH_RA	brain:	n/a	n/a
6	SPI1	chr6:132991244-132991649	GM12891	blood:	n/a	n/a
7	CTCF	chr6:132991347-132991356	Lung_OC	lung:	n/a	n/a
8	SPI1	chr6:132991202-132991660	GM12891	blood:	n/a	n/a
9	CTCF	chr6:132990619-132991457	HCT-116	colon:	n/a	chr6:132990944-132990965
10	ZNF384	chr6:132991354-132991601	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:132990914..132991595-chr6:133089246..133089969,3	K562	blood:
2	chr6:132990212..132992203-chr6:132994281..132996296,2	K562	blood:
3	chr6:132989701..132992045-chr6:133118671..133121663,2	MCF-7	breast:
4	chr6:132990291..132991921-chr6:133135408..133137272,2	MCF-7	breast:
5	chr6:132990619..132991436-chr6:133145491..133146129,2	MCF-7	breast:
6	chr6:132990549..132991482-chr6:133101668..133102279,2	MCF-7	breast:
7	chr6:132990501..132991510-chr6:133088813..133090039,15	MCF-7	breast:
8	chr6:132990956..132993235-chr6:133139715..133142471,3	K562	blood:
9	chr6:132851570..132852206-chr6:132990660..132991417,2	MCF-7	breast:
10	chr6:132989431..132992652-chr6:132993184..132996193,3	MCF-7	breast:
11	chr6:132990569..132991974-chr6:133088542..133089952,6	MCF-7	breast:

No data

Variant related genes	Relation type
HLFP1	TF binding region
ENSG00000112306	Chromatin interaction
ENSG00000146409	Chromatin interaction
ENSG00000218194	Chromatin interaction
ENSG00000206754	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17061615	1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs9483489	1.00[EUR][1000 genomes]
rs9493375	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132991000-132991400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:132991000-132991400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:132991000-132991400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:132991000-132991400	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:132991000-132991400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:132991000-132991400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:132991000-132991400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:132991000-132991400	Enhancers	Adipose Nuclei	Adipose
9	chr6:132991000-132991400	Enhancers	Brain Hippocampus Middle	brain
10	chr6:132991000-132991400	Enhancers	Duodenum Mucosa	Duodenum
11	chr6:132991000-132991400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:132991000-132991400	Enhancers	Fetal Brain Male	brain
13	chr6:132991000-132991400	Enhancers	Small Intestine	intestine
14	chr6:132991000-132991400	Enhancers	Hela-S3	cervix
15	chr6:132991000-132991400	Enhancers	HMEC	breast
16	chr6:132991000-132991600	Enhancers	GM12878-XiMat	blood
17	chr6:132991000-132991600	Enhancers	HepG2	liver
18	chr6:132991000-132991800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:132991000-132991800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr6:132991000-132992000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:132991000-132992000	Enhancers	Primary B cells from cord blood	blood
22	chr6:132991000-132992800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr6:132991000-132993200	Enhancers	Liver	Liver
24	chr6:132991000-132995200	Enhancers	Fetal Intestine Large	intestine
25	chr6:132991000-132995200	Enhancers	Fetal Intestine Small	intestine
26	chr6:132991200-132991400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:132991200-132993200	Enhancers	Stomach Mucosa	stomach

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