Variant report

Variant	rs191693462
Chromosome Location	chr12:106638037-106638038
allele	A/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:

Variant related genes	Relation type
ENSG00000166046	Chromatin interaction
ENSG00000136026	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	chr12:106621400-106638200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:106622200-106639000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:106622200-106639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:106625200-106640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:106628600-106638600	Weak transcription	Fetal Brain Male	brain
6	chr12:106629000-106638400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr12:106629400-106639000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:106630200-106638600	Weak transcription	Hela-S3	cervix
9	chr12:106630200-106638600	Strong transcription	NHLF	lung
10	chr12:106630400-106638200	Strong transcription	HSMM	muscle
11	chr12:106630600-106638600	Weak transcription	Small Intestine	intestine
12	chr12:106631400-106638400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:106631400-106638600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:106631600-106638400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:106631800-106638400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:106632200-106638200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:106632800-106639000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:106633200-106638400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:106633400-106638800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:106633400-106638800	Weak transcription	GM12878-XiMat	blood
21	chr12:106633600-106639000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:106634000-106638800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:106634000-106638800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:106634000-106638800	Weak transcription	Brain Anterior Caudate	brain
25	chr12:106634000-106638800	Weak transcription	Brain Substantia Nigra	brain
26	chr12:106634000-106639600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:106634200-106638200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:106634200-106638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:106634200-106638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:106634200-106638800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:106634200-106638800	Weak transcription	Brain Angular Gyrus	brain
32	chr12:106634200-106638800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:106634200-106639000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:106634200-106639000	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:106634200-106639600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:106634200-106639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:106634200-106639800	Weak transcription	Fetal Intestine Small	intestine
38	chr12:106634200-106640200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:106634200-106640600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:106634200-106640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:106634400-106639000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:106634800-106638400	Weak transcription	Colonic Mucosa	Colon
43	chr12:106634800-106638600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:106635400-106638200	Genic enhancers	Left Ventricle	heart
45	chr12:106635400-106638200	Strong transcription	HMEC	breast
46	chr12:106635400-106638400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:106635600-106639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:106635800-106638200	Strong transcription	Fetal Kidney	kidney
49	chr12:106635800-106639800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:106636000-106638200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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