Variant report

Variant	rs558317453
Chromosome Location	chr8:48701045-48701046
allele	A/G
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	POLR2A	chr8:48700721-48701045	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48700250..48702138-chr8:48739581..48742298,2	K562	blood:

Variant related genes	Relation type
PRKDC	TF binding region

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	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1016915	chr8:48653136-48710849	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv539597	chr8:48653136-48710849	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48679800-48709600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:48684000-48721000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:48684000-48722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:48684200-48701600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:48684200-48704000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:48684200-48733800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:48684200-48733800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:48684200-48734200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:48684400-48702200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:48684400-48704200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:48684400-48755200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:48684400-48778800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:48684400-48861600	Strong transcription	Dnd41	blood
14	chr8:48684600-48702000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:48684600-48721400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:48684800-48728200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:48685000-48713200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
19	chr8:48685200-48701600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:48685200-48707600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:48685200-48713400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:48685200-48734000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:48685400-48702200	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:48685400-48703400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:48685600-48733600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:48687400-48719800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:48688200-48701200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:48688600-48703600	Strong transcription	HUVEC	blood vessel
29	chr8:48689000-48701600	Strong transcription	HSMMtube	muscle
30	chr8:48689200-48708200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:48691000-48704200	Weak transcription	Fetal Brain Male	brain
32	chr8:48691200-48705600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:48691200-48710200	Weak transcription	Fetal Heart	heart
34	chr8:48691400-48703200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:48691800-48709600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:48692600-48701200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:48692600-48701200	Strong transcription	Lung	lung
38	chr8:48693000-48703000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:48693000-48720200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr8:48693600-48702600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:48693800-48751000	Weak transcription	Right Atrium	heart
42	chr8:48695000-48703800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:48695200-48704200	Weak transcription	Fetal Kidney	kidney
44	chr8:48695200-48710200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:48695400-48703000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:48696400-48705200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:48696400-48706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:48696400-48709000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:48697600-48701600	Strong transcription	Left Ventricle	heart
50	chr8:48697600-48701600	Strong transcription	Ovary	ovary

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