Variant report

Variant	rs1566016
Chromosome Location	chr12:117145460-117145461
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	chr12:117141151..117142686-chr12:117143634..117146488,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10850702	0.85[ASN][1000 genomes]
rs11068149	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068151	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068152	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs748380	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117132200-117147000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:117132400-117147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:117134200-117146600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:117135600-117147000	Weak transcription	Gastric	stomach
5	chr12:117135800-117146400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:117136600-117145600	Weak transcription	Brain Germinal Matrix	brain
7	chr12:117136600-117145600	Weak transcription	Right Ventricle	heart
8	chr12:117136600-117146600	Weak transcription	Ovary	ovary
9	chr12:117136800-117146400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:117136800-117146400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:117137800-117146600	Weak transcription	Pancreas	Pancrea
12	chr12:117141400-117145600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:117141400-117145600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:117141400-117146400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:117141400-117146400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:117141400-117146400	Weak transcription	Dnd41	blood
17	chr12:117141400-117146600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:117141400-117147200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:117141600-117146200	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:117141600-117146200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:117141600-117146200	Weak transcription	Brain Substantia Nigra	brain
22	chr12:117141600-117146400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:117141600-117146400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:117141600-117146400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:117141600-117146400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:117141600-117146600	Weak transcription	Liver	Liver
27	chr12:117141600-117150000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:117143200-117147000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:117143800-117146600	Weak transcription	A549	lung
30	chr12:117144800-117148800	Enhancers	Fetal Thymus	thymus
31	chr12:117144800-117149000	Enhancers	Thymus	Thymus
32	chr12:117145000-117146400	Weak transcription	Lung	lung
33	chr12:117145400-117146000	Enhancers	GM12878-XiMat	blood
34	chr12:117145400-117147000	Enhancers	Primary B cells from cord blood	blood
35	chr12:117145400-117147000	Enhancers	Primary B cells from peripheral blood	blood

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