Variant report

Variant	rs17273542
Chromosome Location	chr9:13224491-13224492
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	MAFK	chr9:13224417-13224719	HepG2	liver:	n/a	n/a
2	MAFF	chr9:13224403-13224691	HepG2	liver:	n/a	chr9:13224555-13224573
3	MAFF	chr9:13224449-13224685	K562	blood:	n/a	chr9:13224555-13224573
4	MAFK	chr9:13224404-13224735	IMR90	lung:	n/a	n/a
5	MAFK	chr9:13224394-13224744	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:13223131..13225371-chr9:13226892..13228609,2	K562	blood:

Variant related genes	Relation type
MPDZ	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62532652	1.00[AMR][1000 genomes]
rs62532869	0.89[EUR][1000 genomes]
rs62532872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv892583	chr9:13166139-13350478	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv892584	chr9:13214871-13350478	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13121600-13225200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:13145400-13228600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:13164200-13248600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:13164200-13258800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:13182200-13226800	Weak transcription	Fetal Brain Male	brain
6	chr9:13189000-13268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:13190400-13237800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:13202800-13226400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:13202800-13250600	Weak transcription	Pancreas	Pancrea
10	chr9:13202800-13250800	Weak transcription	Psoas Muscle	Psoas
11	chr9:13203000-13224800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:13203000-13225400	Weak transcription	Brain Anterior Caudate	brain
13	chr9:13203000-13261000	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:13203400-13224800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:13203400-13226400	Weak transcription	Right Ventricle	heart
16	chr9:13203400-13247000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:13203600-13245600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr9:13204000-13241800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:13204000-13249200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:13204200-13244600	Weak transcription	HepG2	liver
21	chr9:13206000-13229200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:13206000-13247000	Weak transcription	Brain Angular Gyrus	brain
23	chr9:13207600-13228200	Weak transcription	Esophagus	oesophagus
24	chr9:13208200-13265000	Weak transcription	Aorta	Aorta
25	chr9:13209800-13266000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr9:13211000-13225200	Weak transcription	Fetal Intestine Large	intestine
27	chr9:13214200-13226600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:13214400-13227600	Weak transcription	Fetal Kidney	kidney
29	chr9:13214600-13224800	Weak transcription	A549	lung
30	chr9:13214800-13225200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:13215000-13225200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:13215800-13233200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:13216400-13224800	Weak transcription	Brain Germinal Matrix	brain
34	chr9:13216600-13247000	Weak transcription	Fetal Brain Female	brain
35	chr9:13217000-13226600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr9:13217000-13244200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr9:13218200-13231800	Weak transcription	NH-A	brain
38	chr9:13219400-13226200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:13219600-13232800	Weak transcription	NHDF-Ad	bronchial
40	chr9:13219800-13224600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:13219800-13265600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:13220000-13226000	Weak transcription	Left Ventricle	heart
43	chr9:13220400-13225800	Weak transcription	Fetal Heart	heart
44	chr9:13221600-13241600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:13221600-13244200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:13221600-13245400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:13221800-13242800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr9:13221800-13246600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:13222000-13224600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr9:13222200-13229400	Strong transcription	HSMMtube	muscle

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