Variant report

Variant	rs5745830
Chromosome Location	chr12:118460629-118460630
allele	C/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	chr12:118460476-118460899	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118459686..118461739-chr12:118499240..118501407,2	K562	blood:

Variant related genes	Relation type
RFC5	TF binding region
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12320014	1.00[MEX][hapmap]
rs7309319	1.00[MEX][hapmap]
rs73410709	1.00[AMR][1000 genomes]
rs7959442	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560388	chr12:118391600-118482352	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5745830	PDGFA	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118455200-118462400	Weak transcription	Psoas Muscle	Psoas
2	chr12:118455200-118472800	Weak transcription	Right Atrium	heart
3	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:118455600-118461000	Weak transcription	HSMM	muscle
5	chr12:118455600-118462600	Weak transcription	HSMMtube	muscle
6	chr12:118455600-118462800	Weak transcription	NH-A	brain
7	chr12:118455600-118490200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:118455800-118462600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:118455800-118462600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:118455800-118462600	Weak transcription	Small Intestine	intestine
11	chr12:118455800-118463800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:118455800-118469600	Weak transcription	Fetal Brain Male	brain
13	chr12:118455800-118471800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:118455800-118476000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:118455800-118485000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:118455800-118490000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:118456000-118460800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:118456000-118478000	Weak transcription	Fetal Heart	heart
19	chr12:118456000-118482800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:118456000-118484600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:118456000-118490200	Strong transcription	Fetal Stomach	stomach
22	chr12:118456200-118462800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:118456200-118471000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:118456200-118472400	Strong transcription	A549	lung
25	chr12:118456200-118484000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:118456200-118484200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:118456200-118484600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:118456200-118490000	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:118456200-118490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:118456200-118490400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:118456400-118460800	Strong transcription	Hela-S3	cervix
32	chr12:118456400-118472200	Weak transcription	Stomach Mucosa	stomach
33	chr12:118456400-118489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:118456400-118491000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:118456600-118461000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:118456600-118477400	Strong transcription	Fetal Thymus	thymus
37	chr12:118456600-118482800	Strong transcription	Primary T cells from cord blood	blood
38	chr12:118456600-118489800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:118456800-118460800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr12:118456800-118461000	Strong transcription	HepG2	liver
41	chr12:118456800-118471800	Strong transcription	Liver	Liver
42	chr12:118456800-118473000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:118456800-118474400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:118456800-118482000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr12:118456800-118484000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr12:118456800-118489400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:118456800-118489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:118457000-118461000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:118457000-118461000	Strong transcription	Fetal Lung	lung
50	chr12:118457000-118461000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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