Variant report

Variant	rs533588919
Chromosome Location	chr18:12396317-12396318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr18:12396297-12396914	HCT-116	colon:	n/a	n/a
2	MAX	chr18:12396258-12396942	HepG2	liver:	n/a	n/a
3	MAX	chr18:12396267-12396924	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr18:12396177-12396982	HCT-116	colon:	n/a	n/a
5	JUND	chr18:12396211-12397002	HCT-116	colon:	n/a	chr18:12396663-12396674
6	NFIC	chr18:12396308-12396985	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr18:12396295-12396967	MCF-7	breast:	n/a	n/a
8	RAD21	chr18:12396306-12396970	HCT-116	colon:	n/a	n/a
9	CTCF	chr18:12396200-12396350	MCF-7	breast:	n/a	n/a
10	TCF12	chr18:12396307-12397006	ECC-1	luminal epithelium:	n/a	n/a
11	RAD21	chr18:12396252-12396840	MCF-7	breast:	n/a	n/a
12	SMC3	chr18:12396209-12396865	Hela-S3	cervix:	n/a	n/a
13	TCF7L2	chr18:12396076-12396845	Hela-S3	cervix:	n/a	chr18:12396637-12396651

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12391783..12399361-chr18:12419089..12424121,12	MCF-7	breast:
2	chr18:12395766..12397047-chr18:12422358..12424257,19	MCF-7	breast:
3	chr18:12396027..12396913-chr18:12422599..12423644,3	MCF-7	breast:
4	chr18:12395807..12401661-chr18:12404688..12409428,6	K562	blood:
5	chr18:12394534..12398086-chr18:12656747..12659714,3	MCF-7	breast:
6	chr18:12395095..12397958-chr18:12408142..12409691,2	MCF-7	breast:
7	chr18:12395925..12398369-chr18:12399958..12402422,3	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
RNU7-129P	TF binding region
ENSG00000251937	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000215527	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv1060728	chr18:12364077-12410409	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv978720	chr18:12395653-12408191	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12394600-12401600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:12394600-12407000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:12394800-12396600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:12394800-12396600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:12394800-12396600	Weak transcription	A549	lung
6	chr18:12395000-12396400	Weak transcription	Colonic Mucosa	Colon
7	chr18:12396000-12397000	Flanking Active TSS	HepG2	liver
8	chr18:12396200-12396400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr18:12396200-12396400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr18:12396200-12396400	Enhancers	K562	blood
11	chr18:12396200-12396800	Flanking Active TSS	Hela-S3	cervix
12	chr18:12396200-12397000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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