Variant report

Variant	rs58594026
Chromosome Location	chr12:30850292-30850293
allele	C/T
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	chr12:30850212-30850421	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30849095..30851444-chr12:30906368..30909169,3	K562	blood:
2	chr12:30848203..30850367-chr12:31477649..31479869,2	K562	blood:

Variant related genes	Relation type
IPO8	TF binding region
ENSG00000110888	Chromatin interaction
ENSG00000246331	Chromatin interaction
ENSG00000139146	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57268360	1.00[AMR][1000 genomes]
rs57283759	1.00[AMR][1000 genomes]
rs57348846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57520861	1.00[AMR][1000 genomes]
rs58736630	1.00[AMR][1000 genomes]
rs59058346	1.00[AMR][1000 genomes]
rs59475424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60192978	1.00[AMR][1000 genomes]
rs60404848	1.00[AMR][1000 genomes]
rs61501812	1.00[AMR][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30847400-30850400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
3	chr12:30849400-30852600	Weak transcription	Osteobl	bone
4	chr12:30849400-30853800	Weak transcription	HSMMtube	muscle
5	chr12:30849400-30854200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:30849400-30860600	Weak transcription	NH-A	brain
7	chr12:30849400-30861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:30849400-30862800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:30849400-30866200	Weak transcription	Fetal Brain Male	brain
10	chr12:30849600-30852600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:30849600-30853000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:30849600-30853400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:30849600-30853600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:30849600-30853600	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:30849600-30853600	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:30849600-30853600	Weak transcription	NHDF-Ad	bronchial
17	chr12:30849600-30853800	Weak transcription	Brain Angular Gyrus	brain
18	chr12:30849600-30861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:30849600-30861800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:30849600-30861800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:30849600-30861800	Weak transcription	NHEK	skin
22	chr12:30849600-30862000	Weak transcription	Brain Germinal Matrix	brain
23	chr12:30849600-30862000	Weak transcription	HMEC	breast
24	chr12:30849600-30862200	Weak transcription	Brain Anterior Caudate	brain
25	chr12:30849600-30862200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:30849600-30862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:30849600-30862600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
29	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
30	chr12:30849800-30852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:30849800-30853000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:30849800-30853400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:30849800-30853400	Weak transcription	HSMM	muscle
34	chr12:30849800-30853600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:30849800-30861800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:30849800-30861800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:30849800-30862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:30849800-30862000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:30849800-30862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:30849800-30862200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:30849800-30862400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:30849800-30862400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:30849800-30862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:30849800-30862400	Weak transcription	Lung	lung
45	chr12:30849800-30862600	Weak transcription	Ovary	ovary
46	chr12:30849800-30862800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:30849800-30862800	Weak transcription	Brain Substantia Nigra	brain
48	chr12:30849800-30862800	Weak transcription	Left Ventricle	heart
49	chr12:30849800-30862800	Weak transcription	Pancreas	Pancrea
50	chr12:30849800-30867000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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