Variant report

Variant	rs1382848
Chromosome Location	chr12:58023741-58023742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57908910..57916122-chr12:58022622..58031573,17	K562	blood:
2	chr12:57908910..57916403-chr12:58022622..58028885,15	K562	blood:

Variant related genes	Relation type
ENSG00000166986	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000208028	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12306667	1.00[LWK][hapmap]
rs7974137	1.00[LWK][hapmap]

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	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58017000-58025000	Weak transcription	K562	blood
2	chr12:58018000-58024600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:58018800-58024000	Strong transcription	Brain Germinal Matrix	brain
4	chr12:58018800-58024200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:58019400-58025200	Weak transcription	Hela-S3	cervix
6	chr12:58020400-58024800	Weak transcription	HepG2	liver
7	chr12:58020600-58024800	Strong transcription	A549	lung
8	chr12:58020600-58026200	Weak transcription	Aorta	Aorta
9	chr12:58020800-58025200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:58021400-58025600	Weak transcription	HMEC	breast
11	chr12:58021600-58024000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:58021600-58024800	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:58022000-58025600	Weak transcription	Pancreas	Pancrea
14	chr12:58022200-58024400	ZNF genes & repeats	Fetal Brain Female	brain
15	chr12:58022600-58024200	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:58022600-58025600	Weak transcription	Gastric	stomach
17	chr12:58023000-58023800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:58023000-58025600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:58023200-58024000	Enhancers	Brain Hippocampus Middle	brain
20	chr12:58023200-58024800	Enhancers	Brain Anterior Caudate	brain
21	chr12:58023400-58024000	Genic enhancers	Brain Angular Gyrus	brain
22	chr12:58023400-58024200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:58023400-58024200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr12:58023400-58024400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:58023400-58025400	Enhancers	Brain Cingulate Gyrus	brain

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