Variant report

Variant	rs1093290
Chromosome Location	chr12:117939723-117939724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117922408..117925128-chr12:117937120..117940013,2	MCF-7	breast:
2	chr1:54609374..54609957-chr12:117938978..117939810,2	MCF-7	breast:
3	chr12:117938022..117941768-chr12:117943153..117947077,5	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1093288	1.00[AFR][1000 genomes]
rs1093289	0.80[ASN][1000 genomes]
rs1093299	0.93[EUR][1000 genomes]
rs1093302	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1093305	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2936838	1.00[AFR][1000 genomes]
rs2944722	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][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	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1045538	chr12:117929400-117963331	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117935400-117941400	Enhancers	Liver	Liver
2	chr12:117936000-117940200	Enhancers	Pancreas	Pancrea
3	chr12:117936600-117940000	Enhancers	A549	lung
4	chr12:117937400-117939800	Enhancers	Fetal Stomach	stomach
5	chr12:117938400-117941000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:117938600-117939800	Enhancers	Adipose Nuclei	Adipose
7	chr12:117938600-117940000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:117938600-117940000	Enhancers	Left Ventricle	heart
9	chr12:117938600-117940000	Enhancers	Stomach Mucosa	stomach
10	chr12:117938600-117940800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr12:117939000-117940200	Enhancers	Gastric	stomach
12	chr12:117939200-117939800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr12:117939200-117939800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
14	chr12:117939200-117939800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr12:117939200-117939800	Enhancers	NHDF-Ad	bronchial
16	chr12:117939200-117940000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:117939200-117940200	Enhancers	Fetal Lung	lung
18	chr12:117939200-117940200	Enhancers	Lung	lung
19	chr12:117939200-117940200	Enhancers	Right Ventricle	heart
20	chr12:117939200-117940200	Enhancers	HepG2	liver
21	chr12:117939200-117940800	Enhancers	Psoas Muscle	Psoas
22	chr12:117939400-117940000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:117939600-117939800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:117939600-117939800	Weak transcription	Right Atrium	heart
25	chr12:117939600-117939800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr12:117939600-117942800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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