Variant report

Variant	rs555983559
Chromosome Location	chr12:106638689-106638690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:
2	chr12:106636406..106639904-chr12:106695865..106698141,3	MCF-7	breast:
3	chr12:106637683..106639757-chr12:106691523..106693781,3	MCF-7	breast:
4	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
5	chr12:106622589..106625717-chr12:106638331..106640361,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000238609	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830730	chr12:106621530-106642222	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1839947	chr12:106622186-106642064	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1797996	chr12:106622186-106642222	Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv560055	chr12:106634722-106641710	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv560056	chr12:106634722-106642064	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv560057	chr12:106634722-106642170	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv560058	chr12:106634722-106642222	Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv560059	chr12:106637876-106641962	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv1792778	chr12:106637876-106642222	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv1842648	chr12:106637876-106642222	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv560060	chr12:106637876-106642390	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv1799917	chr12:106637876-106649988	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised 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	11 gene(s)	inside rSNPs	diseases
13	esv1834434	chr12:106637876-106649988	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106622200-106639000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:106622200-106639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:106625200-106640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:106629400-106639000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:106632800-106639000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:106633400-106638800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:106633400-106638800	Weak transcription	GM12878-XiMat	blood
8	chr12:106633600-106639000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:106634000-106638800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:106634000-106638800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:106634000-106638800	Weak transcription	Brain Anterior Caudate	brain
12	chr12:106634000-106638800	Weak transcription	Brain Substantia Nigra	brain
13	chr12:106634000-106639600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:106634200-106638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:106634200-106638800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:106634200-106638800	Weak transcription	Brain Angular Gyrus	brain
17	chr12:106634200-106638800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:106634200-106639000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:106634200-106639000	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:106634200-106639600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:106634200-106639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:106634200-106639800	Weak transcription	Fetal Intestine Small	intestine
23	chr12:106634200-106640200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:106634200-106640600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:106634200-106640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:106634400-106639000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:106635600-106639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:106635800-106639800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:106636000-106638800	Genic enhancers	Colon Smooth Muscle	Colon
30	chr12:106636200-106638800	Genic enhancers	Rectal Mucosa Donor 31	rectum
31	chr12:106636400-106638800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:106636400-106638800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:106636400-106638800	Weak transcription	Placenta	Placenta
34	chr12:106636400-106638800	Weak transcription	Gastric	stomach
35	chr12:106636600-106638800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:106636600-106638800	Weak transcription	Adipose Nuclei	Adipose
37	chr12:106636600-106638800	Weak transcription	Esophagus	oesophagus
38	chr12:106636600-106639000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:106636800-106638800	Enhancers	Right Atrium	heart
40	chr12:106637000-106639000	Weak transcription	Liver	Liver
41	chr12:106637000-106639400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr12:106637000-106639600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr12:106637200-106638800	Genic enhancers	Muscle Satellite Cultured Cells	--
44	chr12:106637200-106638800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr12:106637200-106638800	Genic enhancers	Right Ventricle	heart
46	chr12:106637200-106639000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:106637200-106639400	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:106637200-106639800	Genic enhancers	Fetal Muscle Leg	muscle
49	chr12:106637600-106638800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr12:106637600-106639000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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