Variant report

Variant	rs546690690
Chromosome Location	chr12:106533246-106533247
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105813159..105815019-chr12:106530555..106533790,3	MCF-7	breast:
2	chr12:106492655..106494743-chr12:106531247..106533400,2	MCF-7	breast:
3	chr12:106531533..106535020-chr12:106751427..106753733,3	MCF-7	breast:
4	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
5	chr12:106533049..106533686-chr19:42721299..42721921,2	HCT-116	colon:
6	chr12:106532785..106534884-chr12:106750299..106753050,2	MCF-7	breast:
7	chr12:106530538..106533489-chr21:45720993..45722584,2	MCF-7	breast:
8	chr12:106531262..106533679-chr12:106543496..106547207,3	MCF-7	breast:
9	chr12:106417953..106419707-chr12:106531100..106533719,2	MCF-7	breast:
10	chr12:106378534..106380101-chr12:106531671..106533641,2	MCF-7	breast:
11	chr12:105878812..105881754-chr12:106532109..106533760,2	MCF-7	breast:
12	chr12:106529953..106533456-chr12:106589507..106592473,3	MCF-7	breast:
13	chr12:105946907..105949767-chr12:106531210..106533511,2	MCF-7	breast:
14	chr12:106530740..106533315-chr17:57922492..57924667,2	MCF-7	breast:
15	chr12:106322581..106324128-chr12:106531603..106533720,2	MCF-7	breast:
16	chr12:106439470..106441624-chr12:106531881..106533487,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136026	Chromatin interaction
ENSG00000013503	Chromatin interaction
ENSG00000160570	Chromatin interaction
ENSG00000258355	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040534	chr12:106528394-106619175	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3441307	chr12:106531647-106534695	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3400925	chr12:106531722-106534570	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv14431	chr12:106532468-106533798	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106528600-106534200	Active TSS	Fetal Brain Female	brain
2	chr12:106529200-106534200	Active TSS	Right Ventricle	heart
3	chr12:106529200-106534600	Active TSS	Aorta	Aorta
4	chr12:106529200-106535000	Active TSS	Left Ventricle	heart
5	chr12:106529400-106534000	Active TSS	Ovary	ovary
6	chr12:106529600-106533800	Active TSS	HSMM	muscle
7	chr12:106529600-106535000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:106529800-106533600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:106530000-106534800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:106530000-106534800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:106530200-106533400	Active TSS	Lung	lung
12	chr12:106530400-106534000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:106530400-106534000	Active TSS	HSMMtube	muscle
14	chr12:106530600-106533800	Active TSS	Brain Anterior Caudate	brain
15	chr12:106530600-106533800	Active TSS	Brain Cingulate Gyrus	brain
16	chr12:106530600-106534000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:106530600-106534000	Active TSS	Colon Smooth Muscle	Colon
18	chr12:106530600-106534000	Active TSS	Psoas Muscle	Psoas
19	chr12:106530600-106534400	Active TSS	NHDF-Ad	bronchial
20	chr12:106530600-106534600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr12:106530800-106534000	Active TSS	Brain Hippocampus Middle	brain
22	chr12:106530800-106534200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:106530800-106534200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:106530800-106535600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:106531200-106534000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:106531200-106534000	Bivalent/Poised TSS	Thymus	Thymus
27	chr12:106531200-106534000	Active TSS	A549	lung
28	chr12:106531200-106534200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:106531200-106534400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
30	chr12:106531400-106533600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:106531400-106533600	Active TSS	Brain Angular Gyrus	brain
32	chr12:106531400-106534400	Active TSS	Gastric	stomach
33	chr12:106531400-106534800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr12:106531600-106533600	Active TSS	NH-A	brain
35	chr12:106531600-106534000	Active TSS	Brain Substantia Nigra	brain
36	chr12:106531600-106534000	Active TSS	Rectal Smooth Muscle	rectum
37	chr12:106531600-106534200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:106531600-106534400	Active TSS	Placenta	Placenta
39	chr12:106531800-106533400	Active TSS	HMEC	breast
40	chr12:106531800-106533600	Active TSS	NHLF	lung
41	chr12:106531800-106533800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr12:106531800-106533800	Active TSS	HUVEC	blood vessel
43	chr12:106531800-106534000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:106531800-106534000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:106531800-106534000	Active TSS	Right Atrium	heart
46	chr12:106531800-106534200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:106531800-106534200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr12:106531800-106534200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr12:106531800-106534200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:106531800-106534200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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