Variant report

Variant	rs73403328
Chromosome Location	chr12:117958731-117958732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117952997..117954824-chr12:117958093..117960432,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11068526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11068529	0.88[AFR][1000 genomes]
rs56138419	1.00[AMR][1000 genomes]
rs56863396	1.00[AMR][1000 genomes]
rs57524460	1.00[AMR][1000 genomes]
rs58706184	1.00[AMR][1000 genomes]
rs60231037	1.00[AMR][1000 genomes]
rs7312290	1.00[AMR][1000 genomes]
rs73399543	1.00[AMR][1000 genomes]
rs73401413	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403396	1.00[AMR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117940200-117978600	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117953000-117962200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:117953000-117995600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:117953800-117962000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:117954200-117966000	Weak transcription	Left Ventricle	heart
6	chr12:117956000-117960000	Enhancers	Liver	Liver
7	chr12:117956800-117962400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:117957000-117959800	Weak transcription	Gastric	stomach
9	chr12:117957000-117995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:117957200-117960200	Weak transcription	Psoas Muscle	Psoas
11	chr12:117957600-117963800	Weak transcription	Fetal Heart	heart
12	chr12:117958000-117960000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:117958200-117958800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:117958200-117958800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:117958200-117960000	Enhancers	Pancreas	Pancrea
16	chr12:117958200-117961400	Enhancers	Adipose Nuclei	Adipose
17	chr12:117958400-117959000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:117958400-117959400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:117958400-117961000	Enhancers	Brain Germinal Matrix	brain
20	chr12:117958600-117958800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:117958600-117958800	Enhancers	Fetal Muscle Trunk	muscle
22	chr12:117958600-117959000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr12:117958600-117960600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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