Variant report

Variant	rs453544
Chromosome Location	chr5:79951809-79951810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr5:79951550-79951850	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:79950436-79952011	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:79949099-79952397	GM12891	blood:	n/a	n/a
4	MXI1	chr5:79950042-79951854	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79930876..79933489-chr5:79951399..79953527,2	K562	blood:
2	chr5:79781713..79786255-chr5:79948613..79954295,12	MCF-7	breast:
3	chr5:79782822..79786705-chr5:79948261..79952248,11	MCF-7	breast:
4	chr5:79702114..79706204-chr5:79947823..79953616,8	MCF-7	breast:
5	chr5:79773551..79776073-chr5:79951057..79953387,2	K562	blood:

No data

Variant related genes	Relation type
MTRNR2L2	TF binding region
DHFR	TF binding region
ENSG00000039319	Chromatin interaction
ENSG00000152380	Chromatin interaction
ENSG00000249042	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs245102	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3406922	chr5:79949421-79951969	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79948600-79952000	Active TSS	GM12878-XiMat	blood
2	chr5:79949200-79952000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:79949600-79952000	Active TSS	K562	blood
4	chr5:79951000-79952200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:79951000-79952600	Flanking Active TSS	Osteobl	bone
6	chr5:79951200-79952200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:79951200-79952200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:79951200-79952400	Flanking Active TSS	Dnd41	blood
9	chr5:79951200-79954800	Weak transcription	Ovary	ovary
10	chr5:79951200-79963200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:79951400-79952000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr5:79951400-79952000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:79951400-79952200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:79951400-79952200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:79951400-79952400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:79951400-79956000	Weak transcription	Aorta	Aorta
17	chr5:79951400-79963200	Weak transcription	Right Ventricle	heart
18	chr5:79951600-79952000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:79951600-79952000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:79951600-79952000	Enhancers	Primary B cells from peripheral blood	blood
21	chr5:79951600-79952000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:79951600-79952000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:79951600-79952000	Enhancers	Brain Hippocampus Middle	brain
24	chr5:79951600-79952000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:79951600-79952000	Enhancers	Fetal Brain Female	brain
26	chr5:79951600-79952000	Enhancers	Fetal Heart	heart
27	chr5:79951600-79952000	Enhancers	Fetal Lung	lung
28	chr5:79951600-79952000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr5:79951600-79952000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:79951600-79952000	Enhancers	Thymus	Thymus
31	chr5:79951600-79952000	Weak transcription	Spleen	Spleen
32	chr5:79951600-79952000	Flanking Active TSS	A549	lung
33	chr5:79951600-79952200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:79951600-79952200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:79951600-79952200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:79951600-79952200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr5:79951600-79952200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr5:79951600-79952200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr5:79951600-79952200	Enhancers	Brain Angular Gyrus	brain
40	chr5:79951600-79952200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:79951600-79952200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:79951600-79952200	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:79951600-79952400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:79951600-79952400	Weak transcription	Placenta	Placenta
45	chr5:79951600-79952400	Enhancers	HSMMtube	muscle
46	chr5:79951600-79952400	Enhancers	NHDF-Ad	bronchial
47	chr5:79951600-79952600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:79951600-79952600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr5:79951600-79952600	Enhancers	HUVEC	blood vessel
50	chr5:79951600-79952600	Enhancers	NH-A	brain

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