Variant report

Variant	rs186766243
Chromosome Location	chr12:106639213-106639214
allele	A/C
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
ENSG00000238609	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000074590	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106622200-106639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:106625200-106640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:106634000-106639600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:106634200-106639600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:106634200-106639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:106634200-106639800	Weak transcription	Fetal Intestine Small	intestine
7	chr12:106634200-106640200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:106634200-106640600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:106634200-106640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:106635600-106639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:106635800-106639800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:106637000-106639400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:106637000-106639600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr12:106637200-106639400	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:106637200-106639800	Genic enhancers	Fetal Muscle Leg	muscle
16	chr12:106637600-106639800	Genic enhancers	Fetal Stomach	stomach
17	chr12:106637600-106640000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:106637600-106640800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr12:106638000-106639800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:106638000-106640000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:106638000-106640000	Enhancers	Stomach Mucosa	stomach
22	chr12:106638000-106640600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:106638200-106639800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:106638200-106639800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:106638200-106639800	Enhancers	Fetal Heart	heart
26	chr12:106638200-106639800	Weak transcription	Fetal Intestine Large	intestine
27	chr12:106638200-106640000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:106638400-106639800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:106638400-106639800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:106638400-106639800	Enhancers	Pancreas	Pancrea
31	chr12:106638400-106640000	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr12:106638400-106640000	Enhancers	Ovary	ovary
33	chr12:106638400-106640200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:106638400-106640200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:106638600-106639400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:106638600-106639400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:106638600-106639400	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr12:106638600-106639800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:106638600-106639800	Enhancers	Aorta	Aorta
40	chr12:106638600-106639800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr12:106638600-106639800	Enhancers	Fetal Brain Male	brain
42	chr12:106638600-106640400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:106638600-106640600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr12:106638600-106640600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:106638600-106640600	Enhancers	Small Intestine	intestine
46	chr12:106638600-106640800	Flanking Active TSS	HUVEC	blood vessel
47	chr12:106638800-106639400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr12:106638800-106639400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:106638800-106639600	Enhancers	Adipose Nuclei	Adipose
50	chr12:106638800-106639600	Enhancers	Lung	lung

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