Variant report

Variant	rs190091978
Chromosome Location	chr12:48558817-48558818
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	RAD21	chr12:48558786-48559312	H1-hESC	embryonic stem cell:	n/a	chr12:48558865-48558875
2	CTCF	chr12:48558763-48559625	A549	lung:	n/a	chr12:48559078-48559087 chr12:48559072-48559090
3	CTCF	chr12:48558791-48559336	SK-N-SH	brain:	n/a	chr12:48559078-48559087 chr12:48559072-48559090
4	CTCF	chr12:48558629-48559470	HCT-116	colon:	n/a	chr12:48559078-48559087 chr12:48559072-48559090
5	RAD21	chr12:48558792-48559343	ECC-1	luminal epithelium:	n/a	chr12:48558865-48558875
6	RAD21	chr12:48558792-48559262	H1-hESC	embryonic stem cell:	n/a	chr12:48558865-48558875
7	RAD21	chr12:48558777-48559582	SK-N-SH	brain:	n/a	chr12:48558865-48558875
8	CTCF	chr12:48558776-48559362	MCF-7	breast:	n/a	chr12:48559078-48559087 chr12:48559072-48559090
9	CTCF	chr12:48558808-48559438	HCT-116	colon:	n/a	chr12:48559078-48559087 chr12:48559072-48559090
10	RAD21	chr12:48558729-48559375	HCT-116	colon:	n/a	chr12:48558865-48558875
11	RAD21	chr12:48558762-48559374	ECC-1	luminal epithelium:	n/a	chr12:48558865-48558875
12	RAD21	chr12:48558720-48559349	HepG2	liver:	n/a	chr12:48558865-48558875
13	RAD21	chr12:48558764-48559393	HCT-116	colon:	n/a	chr12:48558865-48558875
14	CTCF	chr12:48558809-48559301	K562	blood:	n/a	chr12:48559078-48559087 chr12:48559072-48559090
15	CTCF	chr12:48558794-48559196	K562	blood:	n/a	chr12:48559078-48559087 chr12:48559072-48559090
16	RAD21	chr12:48558805-48559316	A549	lung:	n/a	chr12:48558865-48558875
17	CTCF	chr12:48558806-48559296	T-47D	breast:	n/a	chr12:48559078-48559087 chr12:48559072-48559090
18	RAD21	chr12:48558694-48559290	MCF-7	breast:	n/a	chr12:48558865-48558875
19	CTCF	chr12:48558797-48559288	A549	lung:	n/a	chr12:48559078-48559087 chr12:48559072-48559090
20	SMC3	chr12:48558732-48559351	GM12878	blood:	n/a	n/a
21	RAD21	chr12:48558728-48559374	A549	lung:	n/a	chr12:48558865-48558875

No.	Distal block	Cell Line	Cell type
1	chr12:48477561..48478652-chr12:48558658..48559651,7	MCF-7	breast:
2	chr12:48477632..48478212-chr12:48558666..48559592,2	MCF-7	breast:
3	chr12:48500571..48503072-chr12:48556879..48559027,2	K562	blood:
4	chr12:48477424..48478020-chr12:48558629..48559212,2	K562	blood:
5	chr12:48336001..48336747-chr12:48558620..48559352,3	K562	blood:
6	chr12:48298747..48299610-chr12:48558705..48559281,2	MCF-7	breast:
7	chr12:48549808..48555740-chr12:48556420..48560606,6	K562	blood:
8	chr12:48239241..48242168-chr12:48557559..48560161,2	K562	blood:

Variant related genes	Relation type
ENSG00000258051	TF binding region
ENSG00000111424	Chromatin interaction
ENSG00000258051	Chromatin interaction
ENSG00000177981	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv976608	chr12:48558446-48563571	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48557000-48559200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:48557200-48559000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:48557400-48559000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr12:48558400-48559000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:48558400-48559000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:48558800-48559000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:48558800-48559000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:48558800-48559200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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