Variant report

Variant	rs548533954
Chromosome Location	chr12:1740733-1740734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1703157..1705505-chr12:1739226..1741204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv898587	chr12:1732295-1756642	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv898588	chr12:1736314-1755960	Bivalent Enhancer Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv556994	chr12:1737309-1743843	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv898589	chr12:1738111-1755654	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv898590	chr12:1740171-1757743	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1733000-1744000	Weak transcription	K562	blood
2	chr12:1737800-1740800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr12:1737800-1740800	Bivalent Enhancer	Fetal Lung	lung
4	chr12:1738600-1740800	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr12:1739800-1740800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:1739800-1740800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr12:1739800-1740800	Enhancers	HSMM	muscle
8	chr12:1739800-1740800	Enhancers	NH-A	brain
9	chr12:1739800-1741400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:1739800-1742000	Weak transcription	Right Atrium	heart
11	chr12:1739800-1753800	Weak transcription	Esophagus	oesophagus
12	chr12:1740000-1740800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr12:1740000-1740800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:1740000-1740800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:1740000-1740800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:1740000-1740800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr12:1740000-1740800	Bivalent Enhancer	Fetal Heart	heart
18	chr12:1740000-1740800	Bivalent Enhancer	Placenta	Placenta
19	chr12:1740000-1740800	Bivalent Enhancer	Fetal Stomach	stomach
20	chr12:1740000-1740800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr12:1740000-1741000	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr12:1740000-1741200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr12:1740000-1741200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr12:1740000-1741400	Weak transcription	Liver	Liver
25	chr12:1740000-1744000	Weak transcription	Aorta	Aorta
26	chr12:1740000-1748800	Weak transcription	Pancreas	Pancrea
27	chr12:1740000-1749000	Weak transcription	Ovary	ovary
28	chr12:1740200-1740800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:1740200-1740800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:1740200-1740800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr12:1740200-1740800	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:1740200-1740800	Enhancers	Brain Substantia Nigra	brain
33	chr12:1740200-1740800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr12:1740200-1740800	Enhancers	GM12878-XiMat	blood
35	chr12:1740200-1741000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:1740200-1741000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:1740200-1741000	Enhancers	NHDF-Ad	bronchial
38	chr12:1740200-1741600	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr12:1740200-1745000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:1740400-1740800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:1740400-1740800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
42	chr12:1740400-1740800	Flanking Active TSS	Fetal Brain Female	brain
43	chr12:1740400-1740800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr12:1740400-1740800	Enhancers	NHLF	lung
45	chr12:1740400-1741000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:1740400-1741000	Enhancers	Brain Hippocampus Middle	brain
47	chr12:1740400-1741000	Enhancers	HSMMtube	muscle
48	chr12:1740400-1741200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr12:1740400-1741400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:1740400-1741600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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