Variant report

Variant	rs552440685
Chromosome Location	chr15:45478937-45478938
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45465361..45468029-chr15:45478692..45480743,2	MCF-7	breast:
2	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
3	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
4	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
5	chr15:45478077..45482452-chr15:45491020..45494377,5	MCF-7	breast:
6	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
7	chr15:45461602..45463661-chr15:45476012..45479858,4	K562	blood:
8	chr15:45477456..45480320-chr15:45491100..45493481,2	MCF-7	breast:
9	chr15:45474753..45476915-chr15:45477928..45479578,2	MCF-7	breast:
10	chr15:45471595..45473672-chr15:45478332..45480462,2	MCF-7	breast:
11	chr15:45464668..45467281-chr15:45477714..45479302,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259519	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000259539	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
6	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	esv3339591	chr15:45478685-45481233	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45473200-45480400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:45475800-45479400	Flanking Active TSS	Fetal Brain Female	brain
3	chr15:45476000-45480200	Weak transcription	K562	blood
4	chr15:45476200-45479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:45476600-45479200	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr15:45476800-45479000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:45476800-45479400	Flanking Active TSS	HepG2	liver
8	chr15:45477200-45479600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:45477200-45480400	Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr15:45477400-45479000	Enhancers	Dnd41	blood
11	chr15:45477400-45479200	Enhancers	Brain Substantia Nigra	brain
12	chr15:45477400-45479400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr15:45477400-45479800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:45477600-45479200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:45477800-45479400	Flanking Active TSS	HSMM	muscle
16	chr15:45477800-45479600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:45477800-45479800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:45478000-45479000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:45478000-45479200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:45478000-45479200	Enhancers	Aorta	Aorta
21	chr15:45478000-45479400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:45478000-45479400	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr15:45478000-45479400	Flanking Active TSS	HSMMtube	muscle
24	chr15:45478000-45479600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr15:45478000-45479600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:45478000-45480200	Enhancers	Placenta	Placenta
27	chr15:45478200-45479000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:45478200-45479200	Enhancers	Lung	lung
29	chr15:45478200-45479200	Enhancers	NH-A	brain
30	chr15:45478200-45479400	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr15:45478200-45479600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr15:45478200-45479800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr15:45478200-45480600	Active TSS	Fetal Kidney	kidney
34	chr15:45478400-45479000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:45478400-45479200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr15:45478400-45479200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:45478400-45479200	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr15:45478400-45479200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
39	chr15:45478400-45479400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:45478600-45479000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
41	chr15:45478600-45479000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr15:45478600-45479000	Flanking Active TSS	Ovary	ovary
43	chr15:45478600-45479200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:45478600-45479200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr15:45478600-45479200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:45478600-45479400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr15:45478600-45479400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:45478600-45479400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:45478600-45479400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:45478600-45479400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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