Variant report

Variant	rs12085867
Chromosome Location	chr1:185227151-185227152
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:185226497-185227251	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr1:185226574-185227666	SK-N-SH	brain:	n/a	n/a
3	CEBPB	chr1:185226761-185227544	HCT-116	colon:	n/a	n/a
4	CEBPB	chr1:185227039-185227251	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:185227021-185227276	IMR90	lung:	n/a	n/a
6	NFIC	chr1:185226746-185227277	SK-N-SH	brain:	n/a	n/a
7	MAX	chr1:185226667-185227307	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:185226497-185227205	Hela-S3	cervix:	n/a	n/a
9	STAT3	chr1:185226959-185227362	Hela-S3	cervix:	n/a	n/a
10	TBP	chr1:185226693-185227405	Hela-S3	cervix:	n/a	n/a
11	NFIC	chr1:185226825-185227179	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr1:185226886-185227367	ECC-1	luminal epithelium:	n/a	n/a
13	GTF2F1	chr1:185226690-185227234	Hela-S3	cervix:	n/a	n/a
14	RCOR1	chr1:185226825-185227166	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:185226767-185227197	HCT-116	colon:	n/a	n/a
16	EP300	chr1:185226941-185227514	Hela-S3	cervix:	n/a	n/a
17	NFIC	chr1:185226754-185227347	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr1:185226906-185227290	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr1:185227027-185227214	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr1:185226802-185227828	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr1:185226670-185227378	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr1:185227112-185227273	K562	blood:	n/a	n/a
23	TCF7L2	chr1:185226674-185227327	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185225715..185228034-chr1:185284675..185287044,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206640	TF binding region
ENSG00000273004	Chromatin interaction
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12060577	1.00[AMR][1000 genomes]
rs12066400	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087053	1.00[AMR][1000 genomes]
rs16823901	1.00[AMR][1000 genomes]
rs60920626	1.00[AMR][1000 genomes]
rs74132214	1.00[AMR][1000 genomes]
rs74134444	1.00[AMR][1000 genomes]
rs74134445	1.00[AMR][1000 genomes]

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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:185210600-185250400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:185214600-185229400	Weak transcription	NHDF-Ad	bronchial
4	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
5	chr1:185226000-185227200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:185226000-185227200	Enhancers	Dnd41	blood
7	chr1:185226000-185227600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:185226000-185228000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:185226200-185227400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:185226600-185227200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:185226600-185227200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:185226600-185227600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:185226800-185227400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:185226800-185228000	Enhancers	HMEC	breast
15	chr1:185226800-185231800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:185227000-185227400	Flanking Active TSS	Hela-S3	cervix
17	chr1:185227000-185227400	Enhancers	Osteobl	bone
18	chr1:185227000-185227600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:185227000-185228200	Enhancers	Fetal Heart	heart
20	chr1:185227000-185228400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:185227000-185247400	Weak transcription	Primary hematopoietic stem cells	blood

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