Variant report

Variant	rs567627633
Chromosome Location	chr5:114504803-114504804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114504001..114505595-chr5:114509274..114511194,2	K562	blood:
2	chr5:114504108..114507715-chr5:114515140..114518807,4	MCF-7	breast:
3	chr5:114504319..114509129-chr5:114509356..114517256,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152503	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830453	chr5:114277261-114546536	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv462399	chr5:114445023-114526010	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv599477	chr5:114445023-114526010	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv3336600	chr5:114504203-114506901	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114504000-114505000	Active TSS	Fetal Brain Female	brain
2	chr5:114504000-114505400	Active TSS	Fetal Brain Male	brain
3	chr5:114504000-114506200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:114504200-114505000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr5:114504200-114505200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:114504200-114505200	Active TSS	Right Atrium	heart
7	chr5:114504200-114506000	Active TSS	NH-A	brain
8	chr5:114504200-114506200	Active TSS	Brain Cingulate Gyrus	brain
9	chr5:114504200-114506600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:114504200-114506600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr5:114504200-114506600	Active TSS	Brain Angular Gyrus	brain
12	chr5:114504200-114506600	Active TSS	HSMMtube	muscle
13	chr5:114504200-114506800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:114504200-114507000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr5:114504200-114507400	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr5:114504400-114505000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:114504400-114505000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
18	chr5:114504400-114505000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:114504400-114505000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr5:114504400-114505000	Bivalent Enhancer	Fetal Kidney	kidney
21	chr5:114504400-114505000	Flanking Active TSS	HMEC	breast
22	chr5:114504400-114505200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr5:114504400-114505400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:114504400-114506400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:114504400-114506400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:114504400-114506600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:114504400-114506600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:114504600-114505000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr5:114504600-114505000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr5:114504600-114505000	Flanking Active TSS	Fetal Heart	heart
31	chr5:114504600-114505000	Bivalent Enhancer	Fetal Thymus	thymus
32	chr5:114504600-114505200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr5:114504600-114505200	Bivalent Enhancer	Fetal Lung	lung
34	chr5:114504600-114505200	Bivalent/Poised TSS	A549	lung
35	chr5:114504600-114505400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
36	chr5:114504600-114505400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:114504600-114505400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr5:114504600-114505400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr5:114504600-114505600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr5:114504600-114505600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
41	chr5:114504600-114505800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:114504600-114506000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:114504600-114506200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:114504600-114506200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:114504600-114506200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:114504600-114506200	Active TSS	Muscle Satellite Cultured Cells	--
47	chr5:114504600-114506200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:114504600-114506200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:114504600-114506200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
50	chr5:114504600-114506200	Bivalent/Poised TSS	Thymus	Thymus

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