Variant report

Variant	rs11068344
Chromosome Location	chr12:117556174-117556175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10850763	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11068343	0.91[ASN][1000 genomes]
rs11068345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12227113	0.91[ASN][1000 genomes]
rs3935912	0.90[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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117537600-117556400	Weak transcription	Right Atrium	heart
2	chr12:117550000-117556200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:117550400-117556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:117550600-117558800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:117550800-117559200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:117551600-117566000	Weak transcription	Spleen	Spleen
7	chr12:117551800-117556600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:117552000-117556400	Weak transcription	Right Ventricle	heart
9	chr12:117553000-117556600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:117553000-117563800	Weak transcription	Pancreas	Pancrea
11	chr12:117553200-117556600	Weak transcription	Fetal Thymus	thymus
12	chr12:117553400-117562600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:117555600-117556400	Enhancers	HepG2	liver
14	chr12:117555800-117556200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:117555800-117556200	Enhancers	Osteobl	bone
16	chr12:117555800-117556400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:117555800-117557600	Enhancers	Adipose Nuclei	Adipose
18	chr12:117555800-117557600	Enhancers	Fetal Heart	heart
19	chr12:117555800-117559000	Enhancers	Hela-S3	cervix
20	chr12:117556000-117556200	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:117556000-117557200	Enhancers	Fetal Lung	lung
22	chr12:117556000-117557600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:117556000-117557600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:117556000-117557600	Enhancers	Brain Anterior Caudate	brain
25	chr12:117556000-117557600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:117556000-117557600	Enhancers	Fetal Muscle Trunk	muscle
27	chr12:117556000-117557800	Enhancers	Left Ventricle	heart
28	chr12:117556000-117558000	Enhancers	A549	lung

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