Variant report

Variant	rs574994554
Chromosome Location	chr15:52315160-52315161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr15:52315066-52315189	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:52313958..52316321-chr15:52317299..52319618,2	K562	blood:
2	chr15:52262263..52265564-chr15:52309489..52315686,9	K562	blood:
3	chr15:52271865..52274806-chr15:52313995..52316353,2	MCF-7	breast:
4	chr15:52273590..52276860-chr15:52313793..52315606,3	MCF-7	breast:

Variant related genes	Relation type
MAPK6	TF binding region
ENSG00000259438	TF binding region
ENSG00000166477	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1536	chr15:52276293-52320919	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv3378759	chr15:52314984-52315359	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 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	chr15:52311200-52315800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:52312800-52345400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:52313000-52315400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr15:52313000-52315800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:52313200-52315200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:52313200-52315800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr15:52313400-52315200	Enhancers	Fetal Thymus	thymus
8	chr15:52313400-52316400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:52313400-52316400	Enhancers	Brain Cingulate Gyrus	brain
10	chr15:52313400-52317400	Enhancers	Brain Substantia Nigra	brain
11	chr15:52313400-52325400	Weak transcription	Aorta	Aorta
12	chr15:52313600-52315800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr15:52313600-52316000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr15:52313600-52316400	Enhancers	Brain Hippocampus Middle	brain
15	chr15:52313600-52324800	Weak transcription	Fetal Stomach	stomach
16	chr15:52313600-52325400	Weak transcription	Thymus	Thymus
17	chr15:52313800-52315600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:52313800-52315800	Enhancers	Brain Angular Gyrus	brain
19	chr15:52313800-52316000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:52313800-52329400	Weak transcription	Fetal Heart	heart
21	chr15:52314000-52315400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:52314000-52315600	Enhancers	NH-A	brain
23	chr15:52314000-52315800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:52314000-52315800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:52314000-52315800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr15:52314000-52315800	Enhancers	Stomach Mucosa	stomach
27	chr15:52314000-52316000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr15:52314000-52316000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:52314000-52316000	Enhancers	Stomach Smooth Muscle	stomach
30	chr15:52314000-52320600	Weak transcription	Primary T cells from cord blood	blood
31	chr15:52314200-52315200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr15:52314200-52315800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr15:52314200-52316000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr15:52314200-52316000	Enhancers	Left Ventricle	heart
35	chr15:52314200-52316400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr15:52314400-52315200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:52314400-52315200	Flanking Active TSS	K562	blood
38	chr15:52314400-52315400	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:52314400-52315400	Flanking Active TSS	NHEK	skin
40	chr15:52314400-52315800	Enhancers	Adipose Nuclei	Adipose
41	chr15:52314400-52315800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr15:52314400-52315800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr15:52314400-52316000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:52314400-52317200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:52314400-52325400	Weak transcription	Fetal Lung	lung
46	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
47	chr15:52314600-52315200	Enhancers	Colonic Mucosa	Colon
48	chr15:52314600-52315400	Weak transcription	Fetal Intestine Large	intestine
49	chr15:52314600-52315400	Active TSS	GM12878-XiMat	blood
50	chr15:52314600-52315800	Enhancers	Dnd41	blood

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