Variant report

Variant	rs11060273
Chromosome Location	chr12:123321944-123321945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123317720..123322313-chr12:123372173..123377754,7	MCF-7	breast:
2	chr12:123319192..123322007-chr12:123336993..123339222,2	MCF-7	breast:
3	chr12:123321572..123324516-chr12:123371831..123374446,2	MCF-7	breast:
4	chr12:123321295..123323539-chr12:123344367..123346467,3	MCF-7	breast:
5	chr12:123321243..123322853-chr12:123379142..123381791,2	MCF-7	breast:
6	chr12:123321334..123323006-chr12:123430937..123432965,2	MCF-7	breast:
7	chr12:123318351..123322726-chr12:123344658..123350717,8	MCF-7	breast:
8	chr12:123213106..123215069-chr12:123321149..123322935,2	MCF-7	breast:
9	chr12:123320203..123322846-chr12:123716653..123718204,2	MCF-7	breast:
10	chr12:123320093..123322586-chr12:123715495..123717565,2	K562	blood:
11	chr12:123321291..123323892-chr12:123444965..123447071,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130921	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000256152	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000139722	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12302334	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123318800-123322400	Active TSS	Brain Angular Gyrus	brain
2	chr12:123318800-123322400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:123319000-123322000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr12:123320600-123322400	Active TSS	Fetal Kidney	kidney
5	chr12:123320800-123322000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr12:123320800-123322800	Flanking Active TSS	Liver	Liver
7	chr12:123321200-123322000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:123321200-123322400	Weak transcription	Spleen	Spleen
9	chr12:123321400-123322000	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr12:123321400-123322200	Active TSS	Fetal Brain Female	brain
11	chr12:123321400-123322800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:123321400-123322800	Enhancers	A549	lung
13	chr12:123321400-123323000	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr12:123321400-123323000	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr12:123321400-123323200	Weak transcription	Gastric	stomach
16	chr12:123321400-123323600	Active TSS	Rectal Smooth Muscle	rectum
17	chr12:123321400-123324400	Weak transcription	Lung	lung
18	chr12:123321600-123322200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:123321600-123322400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:123321600-123322400	Weak transcription	Esophagus	oesophagus
21	chr12:123321600-123322400	Enhancers	Fetal Heart	heart
22	chr12:123321600-123322400	Weak transcription	Left Ventricle	heart
23	chr12:123321600-123322400	Weak transcription	HSMMtube	muscle
24	chr12:123321600-123322600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr12:123321600-123322600	Enhancers	Fetal Thymus	thymus
26	chr12:123321600-123322800	Bivalent Enhancer	Fetal Lung	lung
27	chr12:123321600-123322800	Enhancers	Dnd41	blood
28	chr12:123321600-123322800	Flanking Active TSS	HepG2	liver
29	chr12:123321600-123323000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:123321600-123323000	Enhancers	K562	blood
31	chr12:123321600-123323200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr12:123321600-123323400	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr12:123321600-123324400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:123321600-123324400	Weak transcription	Right Ventricle	heart
35	chr12:123321600-123324400	Weak transcription	NHLF	lung
36	chr12:123321600-123324600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:123321600-123324600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:123321600-123324600	Weak transcription	Psoas Muscle	Psoas
39	chr12:123321600-123324600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:123321600-123324600	Weak transcription	HSMM	muscle
41	chr12:123321600-123325000	Enhancers	Fetal Brain Male	brain
42	chr12:123321600-123325000	Weak transcription	NH-A	brain
43	chr12:123321600-123325600	Weak transcription	Placenta	Placenta
44	chr12:123321600-123325600	Weak transcription	Osteobl	bone
45	chr12:123321600-123326400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:123321600-123327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:123321600-123332800	Weak transcription	Ovary	ovary
48	chr12:123321600-123333000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:123321800-123322000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:123321800-123322000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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