Variant report

Variant	rs377554519
Chromosome Location	chr12:106639834-106639835
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

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	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:
4	chr12:106639673..106643649-chr12:106748400..106753718,9	MCF-7	breast:
5	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
6	chr12:106622589..106625717-chr12:106638331..106640361,3	MCF-7	breast:
7	chr12:106639693..106641308-chr12:106715072..106718036,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166046	Chromatin interaction
ENSG00000238609	Chromatin interaction
ENSG00000013503	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	esv3403093	chr12:106639622-106643920	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106625200-106640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:106634200-106640200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:106634200-106640600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:106634200-106640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:106637600-106640000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:106637600-106640800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr12:106638000-106640000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:106638000-106640000	Enhancers	Stomach Mucosa	stomach
9	chr12:106638000-106640600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:106638200-106640000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr12:106638400-106640000	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr12:106638400-106640000	Enhancers	Ovary	ovary
13	chr12:106638400-106640200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:106638400-106640200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:106638600-106640400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:106638600-106640600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr12:106638600-106640600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:106638600-106640600	Enhancers	Small Intestine	intestine
19	chr12:106638600-106640800	Flanking Active TSS	HUVEC	blood vessel
20	chr12:106638800-106640000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:106638800-106640000	Enhancers	Brain Anterior Caudate	brain
22	chr12:106638800-106640000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:106638800-106640200	Enhancers	Gastric	stomach
24	chr12:106638800-106640400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:106638800-106640400	Enhancers	Brain Substantia Nigra	brain
26	chr12:106638800-106640400	Enhancers	Placenta	Placenta
27	chr12:106638800-106640400	Enhancers	Psoas Muscle	Psoas
28	chr12:106638800-106640600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:106638800-106640600	Enhancers	Spleen	Spleen
30	chr12:106638800-106640800	Flanking Active TSS	Hela-S3	cervix
31	chr12:106638800-106641000	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr12:106638800-106641200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr12:106639000-106640000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:106639000-106640000	Enhancers	Liver	Liver
35	chr12:106639000-106640000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr12:106639000-106640200	Flanking Active TSS	A549	lung
37	chr12:106639000-106640400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:106639000-106640400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:106639000-106640600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr12:106639000-106640600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr12:106639000-106641200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr12:106639200-106640000	Flanking Active TSS	Right Atrium	heart
43	chr12:106639200-106640000	Enhancers	HMEC	breast
44	chr12:106639200-106640400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:106639200-106642400	Active TSS	HSMM	muscle
46	chr12:106639200-106642400	Active TSS	NHLF	lung
47	chr12:106639200-106642800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr12:106639400-106640200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
49	chr12:106639400-106640200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:106639400-106642600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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