Variant report

Variant	rs1566017
Chromosome Location	chr12:117145097-117145098
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: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10850703	0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10850704	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10850706	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068160	0.82[EUR][1000 genomes]
rs11068161	0.81[EUR][1000 genomes]
rs1566019	0.98[ASN][1000 genomes]
rs4767439	0.83[EUR][1000 genomes]
rs4767440	0.83[EUR][1000 genomes]
rs6490085	0.87[ASN][1000 genomes]
rs748146	0.83[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs748381	0.82[CHB][hapmap];0.95[JPT][hapmap];0.94[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1566017	C12orf49	cis	multi-tissue	Pritchard

Chromatin state (count:33 , 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	chr12:117141400-117145400	Weak transcription	GM12878-XiMat	blood
13	chr12:117141400-117145600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:117141400-117145600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:117141400-117146400	Weak transcription	Brain Anterior Caudate	brain
16	chr12:117141400-117146400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:117141400-117146400	Weak transcription	Dnd41	blood
18	chr12:117141400-117146600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:117141400-117147200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:117141600-117146200	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:117141600-117146200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:117141600-117146200	Weak transcription	Brain Substantia Nigra	brain
23	chr12:117141600-117146400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:117141600-117146400	Weak transcription	Brain Angular Gyrus	brain
25	chr12:117141600-117146400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:117141600-117146400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:117141600-117146600	Weak transcription	Liver	Liver
28	chr12:117141600-117150000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:117143200-117147000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:117143800-117146600	Weak transcription	A549	lung
31	chr12:117144800-117148800	Enhancers	Fetal Thymus	thymus
32	chr12:117144800-117149000	Enhancers	Thymus	Thymus
33	chr12:117145000-117146400	Weak transcription	Lung	lung

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