Variant report

Variant	rs576517918
Chromosome Location	chr5:14672545-14672546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14670223..14672828-chr5:14683390..14686379,2	K562	blood:
2	chr5:14663385..14665837-chr5:14671199..14673342,3	K562	blood:
3	chr5:14662258..14667508-chr5:14670830..14674480,6	MCF-7	breast:
4	chr5:14672451..14674258-chr5:14675048..14677621,3	K562	blood:
5	chr5:14671524..14673260-chr5:14708223..14710525,2	MCF-7	breast:
6	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:

Variant related genes	Relation type
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv1801565	chr5:14671030-14684471	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	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	chr5:14665600-14676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:14666400-14673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:14666400-14673200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:14666400-14674200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:14666400-14675600	Weak transcription	Placenta	Placenta
6	chr5:14666400-14678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:14666400-14688200	Weak transcription	Ovary	ovary
9	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
10	chr5:14666800-14675600	Weak transcription	NHLF	lung
11	chr5:14666800-14675800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:14667000-14675600	Weak transcription	Thymus	Thymus
13	chr5:14667000-14676600	Weak transcription	Fetal Kidney	kidney
14	chr5:14667000-14680000	Weak transcription	Fetal Brain Female	brain
15	chr5:14667000-14681200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
17	chr5:14667200-14672600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:14667400-14676600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:14668200-14672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:14668200-14674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:14668600-14675400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:14668600-14675400	Weak transcription	Fetal Stomach	stomach
23	chr5:14668600-14675600	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:14668600-14677000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr5:14668600-14677200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:14668800-14673400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr5:14668800-14674000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr5:14668800-14675800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr5:14669000-14673400	Enhancers	Primary B cells from peripheral blood	blood
30	chr5:14669000-14673800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:14669400-14673000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr5:14669400-14673200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:14669400-14673400	Enhancers	Liver	Liver
34	chr5:14669400-14676800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr5:14669400-14677200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:14669600-14672600	Enhancers	HMEC	breast
37	chr5:14669600-14672800	Enhancers	Dnd41	blood
38	chr5:14669600-14673200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:14669600-14673200	Enhancers	Duodenum Mucosa	Duodenum
40	chr5:14669800-14673200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:14670000-14673000	Enhancers	Osteobl	bone
42	chr5:14670000-14673400	Flanking Active TSS	GM12878-XiMat	blood
43	chr5:14670200-14672800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:14670200-14673000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr5:14670200-14673200	Enhancers	Fetal Intestine Small	intestine
46	chr5:14670200-14673600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:14670400-14672800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:14670400-14672800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:14670600-14673000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr5:14670600-14673400	Enhancers	Fetal Thymus	thymus

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