Variant report

Variant	rs560475004
Chromosome Location	chr5:114632856-114632857
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr5:114631381-114633200	K562	blood:	n/a	n/a
2	TBP	chr5:114632652-114632979	Hela-S3	cervix:	n/a	n/a
3	ZC3H11A	chr5:114632699-114632886	K562	blood:	n/a	n/a
4	MXI1	chr5:114630407-114633003	SK-N-SH	brain:	n/a	n/a
5	MAZ	chr5:114631291-114632905	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:114619634..114629040-chr5:114629951..114633566,14	MCF-7	breast:
2	chr5:114630838..114633826-chr5:114960976..114962823,3	MCF-7	breast:
3	chr5:114596880..114599090-chr5:114631128..114633570,2	MCF-7	breast:
4	chr5:114630836..114633202-chr5:115177399..115179913,2	MCF-7	breast:
5	chr5:114596551..114598881-chr5:114630526..114633575,4	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC112	TF binding region
ENSG00000145782	Chromatin interaction
ENSG00000250197	Chromatin interaction
ENSG00000271797	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000164219	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3409295	chr5:114631078-114633926	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	esv3403466	chr5:114632003-114633201	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114630200-114633000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr5:114630600-114633200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:114630800-114633000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr5:114630800-114633000	Active TSS	Brain Anterior Caudate	brain
5	chr5:114631000-114633000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr5:114631000-114633200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr5:114631200-114633000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:114631200-114633000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:114631200-114633000	Active TSS	Brain Angular Gyrus	brain
10	chr5:114631200-114633000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr5:114631200-114633200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:114631200-114633200	Active TSS	Thymus	Thymus
13	chr5:114631400-114633000	Active TSS	A549	lung
14	chr5:114631400-114633000	Active TSS	NH-A	brain
15	chr5:114631600-114633000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:114631800-114633000	Active TSS	Primary T cells from cord blood	blood
17	chr5:114631800-114633000	Active TSS	GM12878-XiMat	blood
18	chr5:114631800-114633000	Active TSS	NHEK	skin
19	chr5:114632000-114633000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:114632000-114633000	Active TSS	Primary hematopoietic stem cells	blood
21	chr5:114632000-114633000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:114632200-114633000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:114632200-114633000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:114632200-114633000	Active TSS	Adipose Nuclei	Adipose
25	chr5:114632200-114641800	Weak transcription	Stomach Mucosa	stomach
26	chr5:114632400-114633000	Active TSS	Right Atrium	heart
27	chr5:114632400-114634600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:114632400-114634600	Weak transcription	Spleen	Spleen
29	chr5:114632600-114633000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:114632600-114633000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
31	chr5:114632600-114633000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr5:114632600-114633200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:114632600-114633200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr5:114632600-114633200	Enhancers	Brain Substantia Nigra	brain
35	chr5:114632600-114633400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr5:114632800-114633000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr5:114632800-114633000	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr5:114632800-114633000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr5:114632800-114633000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr5:114632800-114633000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:114632800-114633000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr5:114632800-114633000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:114632800-114633000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:114632800-114633000	Flanking Active TSS	Hela-S3	cervix
45	chr5:114632800-114633200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr5:114632800-114633200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr5:114632800-114633200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:114632800-114633200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr5:114632800-114633200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:114632800-114633200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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