Variant report

Variant	rs8047726
Chromosome Location	chr16:11947561-11947562
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:11891005..11893828-chr16:11944573..11948679,5	MCF-7	breast:
2	chr16:11946957..11949554-chr16:12009472..12011603,2	MCF-7	breast:
3	chr16:11935740..11937833-chr16:11947415..11949733,2	MCF-7	breast:
4	chr16:11947083..11948628-chr16:11955967..11958698,2	K562	blood:
5	chr16:11944103..11947078-chr16:11947331..11952478,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103342	Chromatin interaction
ENSG00000122299	Chromatin interaction
ENSG00000171490	Chromatin interaction
ENSG00000266163	Chromatin interaction
ENSG00000263307	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10744977	0.81[AMR][1000 genomes]
rs11646545	0.87[ASN][1000 genomes]
rs11647818	0.86[ASN][1000 genomes]
rs11649405	0.81[ASN][1000 genomes]
rs153025	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs154148	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs171656	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075159	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs251723	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28279	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs33619	0.81[ASN][1000 genomes]
rs33620	0.81[ASN][1000 genomes]
rs33623	0.81[ASN][1000 genomes]
rs33631	0.86[ASN][1000 genomes]
rs33640	0.82[ASN][1000 genomes]
rs33643	0.82[ASN][1000 genomes]
rs33649	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs33651	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs33652	0.82[EUR][1000 genomes]
rs33653	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33655	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33660	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35153773	0.87[ASN][1000 genomes]
rs40311	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4511557	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7185589	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7193470	0.85[AMR][1000 genomes]
rs7196913	0.88[AMR][1000 genomes]
rs7197111	0.83[AMR][1000 genomes]
rs7198817	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7202234	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8046617	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8061189	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043909	chr16:11839910-12007435	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8047726	GSPT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:11946200-11975600	Weak transcription	Aorta	Aorta
2	chr16:11946400-11947800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr16:11946400-11947800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr16:11946400-11948000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:11946400-11948000	Enhancers	Left Ventricle	heart
6	chr16:11946400-11948200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:11946400-11948200	Enhancers	Pancreas	Pancrea
8	chr16:11946400-11948600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:11946400-11969400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr16:11946400-11969400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:11946400-11969400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:11946400-11975600	Weak transcription	Esophagus	oesophagus
13	chr16:11946600-11947800	Enhancers	Liver	Liver
14	chr16:11946600-11947800	Weak transcription	Brain Hippocampus Middle	brain
15	chr16:11946600-11947800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:11946600-11947800	Weak transcription	NHEK	skin
17	chr16:11946600-11948000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:11946600-11948000	Weak transcription	Brain Angular Gyrus	brain
19	chr16:11946600-11948200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:11946600-11948200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr16:11946600-11948200	Weak transcription	Fetal Lung	lung
22	chr16:11946600-11948400	Weak transcription	Fetal Brain Female	brain
23	chr16:11946600-11948600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr16:11946600-11950800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:11946600-11950800	Weak transcription	A549	lung
26	chr16:11946600-11950800	Weak transcription	Osteobl	bone
27	chr16:11946600-11951000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr16:11946600-11951000	Weak transcription	NH-A	brain
29	chr16:11946600-11958400	Weak transcription	Psoas Muscle	Psoas
30	chr16:11946600-11959600	Weak transcription	NHLF	lung
31	chr16:11946600-11961200	Weak transcription	Stomach Mucosa	stomach
32	chr16:11946600-11961400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:11946600-11961400	Weak transcription	Fetal Kidney	kidney
34	chr16:11946600-11961400	Weak transcription	HSMM	muscle
35	chr16:11946600-11961800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:11946600-11961800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:11946600-11961800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr16:11946600-11962000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr16:11946600-11962200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr16:11946600-11962400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr16:11946600-11962400	Weak transcription	HSMMtube	muscle
42	chr16:11946600-11966800	Weak transcription	Lung	lung
43	chr16:11946600-11969000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:11946600-11970400	Weak transcription	Right Atrium	heart
45	chr16:11946800-11947800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:11946800-11947800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:11946800-11947800	Weak transcription	Primary T cells from cord blood	blood
48	chr16:11946800-11947800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr16:11946800-11947800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr16:11946800-11947800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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