Variant report

Variant	rs7542272
Chromosome Location	chr1:113047907-113047908
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr1:113047802-113048428	HEK293-T-REx	kidney:	n/a	chr1:113048108-113048117
2	CTCF	chr1:113047800-113047950	A549	lung:	n/a	n/a
3	ZNF143	chr1:113047907-113048006	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:113047863-113048072	K562	blood:	n/a	n/a
5	CTCF	chr1:113047802-113048023	GM12878	blood:	n/a	n/a
6	SMC3	chr1:113047833-113047962	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr1:113047837-113047973	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113042549..113044879-chr1:113047286..113049813,2	MCF-7	breast:
2	chr1:113043596..113046525-chr1:113046998..113048803,2	K562	blood:
3	chr1:113044387..113046932-chr1:113047303..113049835,3	K562	blood:
4	chr1:113046634..113048206-chr1:113160443..113162083,2	MCF-7	breast:
5	chr1:113046413..113048318-chr1:113249191..113251337,2	MCF-7	breast:

No data

Variant related genes	Relation type
WNT2B	TF binding region
ENSG00000155366	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000116489	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11102490	1.00[MEX][hapmap]
rs11102493	1.00[MEX][hapmap]
rs1175632	1.00[MEX][hapmap]
rs1175640	1.00[MEX][hapmap]
rs1175642	1.00[MEX][hapmap]
rs12073750	1.00[MEX][hapmap]
rs12087862	1.00[MEX][hapmap]
rs12094504	1.00[MEX][hapmap]
rs17030350	1.00[MEX][hapmap]
rs17030446	1.00[MEX][hapmap]
rs17030475	1.00[MEX][hapmap]
rs1936047	1.00[MEX][hapmap]
rs6693450	1.00[MEX][hapmap]
rs9919308	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1008375	chr1:113028271-113060221	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113045000-113050600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:113045000-113050600	Weak transcription	Spleen	Spleen
3	chr1:113045200-113048200	Enhancers	Placenta	Placenta
4	chr1:113045200-113050400	Weak transcription	Lung	lung
5	chr1:113045200-113050400	Enhancers	Ovary	ovary
6	chr1:113045400-113050400	Weak transcription	A549	lung
7	chr1:113045400-113050600	Bivalent Enhancer	Fetal Stomach	stomach
8	chr1:113045600-113050600	Weak transcription	Esophagus	oesophagus
9	chr1:113045600-113050600	Weak transcription	Gastric	stomach
10	chr1:113046400-113048000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:113046600-113048000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:113046600-113048200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:113046600-113048200	Enhancers	Fetal Lung	lung
14	chr1:113046600-113048600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:113047000-113048000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr1:113047000-113048200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr1:113047000-113049200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr1:113047200-113048200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:113047600-113048000	Enhancers	Fetal Intestine Small	intestine
20	chr1:113047600-113049600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:113047600-113049800	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:113047800-113048000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr1:113047800-113048000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:113047800-113048200	Bivalent Enhancer	Primary B cells from cord blood	blood
25	chr1:113047800-113048800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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