Variant report

Variant	rs12316746
Chromosome Location	chr12:117959136-117959137
allele	C/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: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10160848	1.00[AMR][1000 genomes]
rs11068507	1.00[AMR][1000 genomes]
rs11068509	1.00[AMR][1000 genomes]
rs12298648	1.00[AMR][1000 genomes]
rs12303778	0.91[AFR][1000 genomes]
rs13313227	0.92[AFR][1000 genomes];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:21 , 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	chr12:117958200-117960000	Enhancers	Pancreas	Pancrea
14	chr12:117958200-117961400	Enhancers	Adipose Nuclei	Adipose
15	chr12:117958400-117959400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:117958400-117961000	Enhancers	Brain Germinal Matrix	brain
17	chr12:117958600-117960600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:117958800-117959200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:117958800-117959200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr12:117958800-117960800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:117959000-117959200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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