Variant report

Variant	rs557094241
Chromosome Location	chr12:106640286-106640287
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:
2	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:
3	chr12:106640021..106643402-chr12:106749618..106753030,5	MCF-7	breast:
4	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:
5	chr12:106639673..106643649-chr12:106748400..106753718,9	MCF-7	breast:
6	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
7	chr12:106622589..106625717-chr12:106638331..106640361,3	MCF-7	breast:
8	chr12:106639693..106641308-chr12:106715072..106718036,2	MCF-7	breast:

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	esv3377942	chr12:106640247-106642795	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak 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	chr12:106634200-106640600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:106634200-106640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:106637600-106640800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:106638000-106640600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:106638600-106640400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:106638600-106640600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr12:106638600-106640600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:106638600-106640600	Enhancers	Small Intestine	intestine
10	chr12:106638600-106640800	Flanking Active TSS	HUVEC	blood vessel
11	chr12:106638800-106640400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:106638800-106640400	Enhancers	Brain Substantia Nigra	brain
13	chr12:106638800-106640400	Enhancers	Placenta	Placenta
14	chr12:106638800-106640400	Enhancers	Psoas Muscle	Psoas
15	chr12:106638800-106640600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:106638800-106640600	Enhancers	Spleen	Spleen
17	chr12:106638800-106640800	Flanking Active TSS	Hela-S3	cervix
18	chr12:106638800-106641000	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr12:106638800-106641200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr12:106639000-106640400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:106639000-106640400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:106639000-106640600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:106639000-106640600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:106639000-106641200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:106639200-106640400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:106639200-106642400	Active TSS	HSMM	muscle
27	chr12:106639200-106642400	Active TSS	NHLF	lung
28	chr12:106639200-106642800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:106639400-106642600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:106639600-106640400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:106639600-106640400	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:106639600-106640600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:106639600-106640600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:106639600-106640600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:106639600-106640600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:106639600-106640600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:106639600-106640800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:106639600-106640800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr12:106639600-106640800	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr12:106639600-106640800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr12:106639600-106640800	Flanking Active TSS	NHEK	skin
42	chr12:106639600-106641000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:106639600-106641200	Flanking Active TSS	Colonic Mucosa	Colon
44	chr12:106639600-106642600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:106639800-106640400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr12:106639800-106640400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:106639800-106640400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:106639800-106640400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:106639800-106640400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:106639800-106640400	Flanking Active TSS	Fetal Brain Male	brain

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