Variant report

Variant	rs56018935
Chromosome Location	chr9:21966527-21966528
allele	C/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	POLR2A	chr9:21966245-21966565	Hela-S3	cervix:	n/a	n/a
2	SP1	chr9:21966009-21966539	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:21964929-21971504	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr9:21964896-21966610	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr9:21966227-21966586	Hela-S3	cervix:	n/a	n/a
6	CTBP2	chr9:21964975-21966544	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr9:21966219-21966633	PFSK-1	brain:	n/a	n/a
8	TCF12	chr9:21966072-21966601	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr9:21966213-21966592	ECC-1	luminal epithelium:	n/a	n/a
10	SUZ12	chr9:21964929-21971601	NT2-D1	testis:	n/a	n/a

Variant related genes	Relation type
C9orf53	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10757262	0.88[ASN][1000 genomes]
rs11515	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2518721	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2811709	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3731201	0.88[ASN][1000 genomes]
rs3731246	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv892745	chr9:21857244-22006273	Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv1821117	chr9:21933029-22012229	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv3365660	chr9:21944001-21969383	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv892746	chr9:21953137-22028801	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr9:21964400-21969000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr9:21965400-21972000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:21965600-21966600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:21965800-21966800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:21965800-21967200	Weak transcription	Right Atrium	heart
6	chr9:21965800-21967200	Weak transcription	HMEC	breast
7	chr9:21965800-21968200	Weak transcription	Gastric	stomach
8	chr9:21966000-21967800	Weak transcription	HSMMtube	muscle
9	chr9:21966000-21968200	Weak transcription	Pancreas	Pancrea
10	chr9:21966000-21968400	Weak transcription	HSMM	muscle
11	chr9:21966200-21966600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr9:21966200-21966600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:21966200-21966600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:21966200-21970200	Strong transcription	Hela-S3	cervix
15	chr9:21966200-21971000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:21966200-21972000	Strong transcription	Dnd41	blood
17	chr9:21966400-21966600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr9:21966400-21966600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:21966400-21966600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:21966400-21966600	Bivalent Enhancer	Esophagus	oesophagus

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