Variant report

Variant	rs572796229
Chromosome Location	chr11:18132561-18132562
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	REST	chr11:18132295-18133155	PFSK-1	brain:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
2	REST	chr11:18132259-18133250	ECC-1	luminal epithelium:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
3	REST	chr11:18132339-18133229	MCF-7	breast:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
4	REST	chr11:18132428-18133105	GM12878	blood:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
5	REST	chr11:18132378-18133046	Hela-S3	cervix:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
6	REST	chr11:18132464-18133008	H1-hESC	embryonic stem cell:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
7	REST	chr11:18132429-18133075	HL-60	blood:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
8	REST	chr11:18132485-18133026	HCT-116	colon:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
9	REST	chr11:18132381-18133029	SK-N-SH	brain:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
10	REST	chr11:18132457-18133004	H1-hESC	embryonic stem cell:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
11	REST	chr11:18132496-18133110	K562	blood:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
12	REST	chr11:18132405-18133113	HCT-116	colon:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
13	REST	chr11:18132350-18133161	PFSK-1	brain:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
14	REST	chr11:18132192-18133308	HL-60	blood:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
15	REST	chr11:18132499-18133106	PANC-1	pancreas:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
16	REST	chr11:18132439-18133064	HepG2	liver:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
17	REST	chr11:18132375-18133132	Hela-S3	cervix:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
18	REST	chr11:18132394-18133027	A549	lung:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
19	REST	chr11:18132391-18133122	MCF-7	breast:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
20	REST	chr11:18132437-18133112	PANC-1	pancreas:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
21	REST	chr11:18132470-18133005	HepG2	liver:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
22	REST	chr11:18132551-18133033	A549	lung:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794
23	TEAD4	chr11:18132504-18132964	A549	lung:	n/a	n/a
24	REST	chr11:18131954-18133265	ECC-1	luminal epithelium:	n/a	chr11:18132774-18132794 chr11:18132780-18132789 chr11:18132774-18132794 chr11:18132774-18132788 chr11:18132774-18132794

No.	Distal block	Cell Line	Cell type
1	chr11:18126284..18129283-chr11:18131748..18134155,2	MCF-7	breast:
2	chr11:18127425..18129160-chr11:18131186..18134005,2	K562	blood:
3	chr11:18129937..18132651-chr11:18134696..18136776,2	K562	blood:

Variant related genes	Relation type
SAAL1	TF binding region
ENSG00000166788	Chromatin interaction
ENSG00000255254	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv983174	chr11:18127720-18135636	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv982925	chr11:18132176-18153921	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18128400-18137400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:18129000-18139000	Weak transcription	Right Atrium	heart

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