Variant report

Variant	rs11054393
Chromosome Location	chr12:11782235-11782236
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	chr12:11781998..11784337-chr12:11802587..11804174,2	MCF-7	breast:
2	chr12:11776574..11778214-chr12:11782212..11784019,2	K562	blood:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11054386	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11054392	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898803	chr12:11757867-11794636	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv470267	chr12:11767406-11787989	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11776600-11786400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:11776800-11782800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:11777000-11788200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:11777200-11782600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:11777200-11782600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:11777200-11782800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:11782000-11783000	Weak transcription	GM12878-XiMat	blood
8	chr12:11782200-11782400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr12:11782200-11782400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
10	chr12:11782200-11782400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:11782200-11782400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:11782200-11782400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:11782200-11782400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:11782200-11782400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr12:11782200-11782400	Enhancers	Colonic Mucosa	Colon
16	chr12:11782200-11782400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
17	chr12:11782200-11782400	ZNF genes & repeats	Lung	lung
18	chr12:11782200-11782400	ZNF genes & repeats	Pancreas	Pancrea
19	chr12:11782200-11782400	Bivalent/Poised TSS	Small Intestine	intestine
20	chr12:11782200-11782400	Enhancers	Thymus	Thymus
21	chr12:11782200-11783200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:11782200-11783200	Enhancers	Fetal Muscle Trunk	muscle

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