Variant report

Variant	rs12790585
Chromosome Location	chr11:120000608-120000609
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	STAT3	chr11:120000295-120000660	MCF10A-Er-Src	breast:	n/a	chr11:120000440-120000449 chr11:120000440-120000463 chr11:120000438-120000449 chr11:120000439-120000448
2	STAT3	chr11:120000420-120000738	MCF10A-Er-Src	breast:	n/a	chr11:120000440-120000449 chr11:120000440-120000463 chr11:120000438-120000449 chr11:120000439-120000448
3	STAT3	chr11:119999428-120000736	MCF10A-Er-Src	breast:	n/a	chr11:120000440-120000449 chr11:119999736-119999747 chr11:119999738-119999746 chr11:119999567-119999579 chr11:120000440-120000463 chr11:120000438-120000449 chr11:120000439-120000448
4	MYC	chr11:120000290-120000621	MCF10A-Er-Src	breast:	n/a	chr11:120000525-120000535
5	STAT1	chr11:119999327-120000709	Hela-S3	cervix:	n/a	chr11:120000440-120000449 chr11:119999736-119999747 chr11:119999738-119999746 chr11:119999567-119999579 chr11:120000440-120000463 chr11:120000439-120000448
6	POLR2A	chr11:119999072-120000644	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr11:119999362-120000695	MCF10A-Er-Src	breast:	n/a	chr11:120000440-120000449 chr11:119999736-119999747 chr11:119999738-119999746 chr11:119999567-119999579 chr11:120000440-120000463 chr11:120000438-120000449 chr11:120000439-120000448

No.	Distal block	Cell Line	Cell type
1	chr11:119992602..119994710-chr11:119998240..120000665,2	MCF-7	breast:
2	chr11:119993537..119997499-chr11:119998076..120003019,6	K562	blood:
3	chr11:119999095..120001127-chr11:120038214..120040210,2	MCF-7	breast:
4	chr11:119995303..119997544-chr11:119999140..120002182,3	MCF-7	breast:

Variant related genes	Relation type
TRIM29	TF binding region
ENSG00000137699	Chromatin interaction
ENSG00000176984	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1075790	0.80[AMR][1000 genomes]
rs11217712	0.85[EUR][1000 genomes]
rs12791282	0.80[AMR][1000 genomes]
rs12792820	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12795599	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12799647	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12800456	0.82[AMR][1000 genomes]
rs12802402	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12802652	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12807541	0.80[AMR][1000 genomes]
rs12808008	0.80[AMR][1000 genomes]
rs12808627	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12808972	0.88[AMR][1000 genomes]
rs1901707	0.80[AMR][1000 genomes]
rs2076765	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35652094	0.88[AMR][1000 genomes];0.84[EUR][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 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	chr11:119993800-120001800	Weak transcription	Pancreas	Pancrea
2	chr11:119997600-120003200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
3	chr11:119998600-120000800	Enhancers	Rectal Smooth Muscle	rectum
4	chr11:119998600-120001200	Enhancers	Colon Smooth Muscle	Colon
5	chr11:119998800-120000800	Enhancers	Fetal Intestine Small	intestine
6	chr11:119999000-120001400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:119999000-120001600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:119999000-120006400	Enhancers	Placenta	Placenta
9	chr11:120000000-120000800	Enhancers	HMEC	breast
10	chr11:120000200-120001400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:120000200-120001400	Enhancers	Hela-S3	cervix
12	chr11:120000200-120001800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:120000200-120003400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
14	chr11:120000400-120001200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:120000400-120001600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:120000400-120002200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:120000400-120008400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:120000600-120002600	Weak transcription	Fetal Intestine Large	intestine
19	chr11:120000600-120002800	Weak transcription	Colonic Mucosa	Colon
20	chr11:120000600-120002800	Genic enhancers	NHEK	skin
21	chr11:120000600-120006400	Weak transcription	Fetal Thymus	thymus

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