Variant report

Variant	rs543717009
Chromosome Location	chr2:179358481-179358482
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	chr2:179358391-179358528	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179356121..179358654-chr2:179491189..179492895,2	K562	blood:
2	chr2:179356489..179359180-chr2:179374513..179376046,2	K562	blood:

Variant related genes	Relation type
PLEKHA3	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1002693	chr2:179357045-179365143	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region 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	chr2:179346400-179358600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:179346400-179387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:179346600-179358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:179347200-179358600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:179347200-179358600	Weak transcription	NHEK	skin
6	chr2:179347200-179358800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:179347400-179363000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:179347400-179369400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:179347600-179358600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:179347600-179371000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:179349600-179358600	Weak transcription	Esophagus	oesophagus
12	chr2:179349600-179361200	Strong transcription	Primary T cells from cord blood	blood
13	chr2:179349800-179358600	Weak transcription	Brain Angular Gyrus	brain
14	chr2:179349800-179358600	Weak transcription	Gastric	stomach
15	chr2:179349800-179360400	Weak transcription	Fetal Heart	heart
16	chr2:179349800-179364200	Weak transcription	Hela-S3	cervix
17	chr2:179350000-179358600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:179350200-179358600	Weak transcription	Pancreas	Pancrea
19	chr2:179350200-179358800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:179350200-179358800	Weak transcription	Small Intestine	intestine
21	chr2:179350400-179358800	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:179350400-179364200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:179350400-179371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:179350400-179371600	Strong transcription	Dnd41	blood
25	chr2:179350400-179372400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:179350400-179372400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:179350400-179384400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:179350600-179371200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr2:179350600-179372200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:179350800-179370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:179350800-179371600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:179350800-179372000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:179350800-179372000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:179351000-179368800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:179352000-179358800	Weak transcription	Fetal Brain Male	brain
36	chr2:179352400-179360800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:179352800-179372200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:179353000-179361800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:179353400-179369000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:179353600-179371600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:179353800-179368400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:179354000-179361200	Strong transcription	Fetal Lung	lung
43	chr2:179354000-179362600	Strong transcription	HepG2	liver
44	chr2:179354000-179371600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:179354400-179361600	Strong transcription	Osteobl	bone
46	chr2:179354400-179371400	Strong transcription	Placenta	Placenta
47	chr2:179354400-179371600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:179354400-179372000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:179354600-179359400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr2:179354600-179360400	Strong transcription	Rectal Mucosa Donor 29	rectum

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