Variant report

Variant	rs16872333
Chromosome Location	chr5:74145578-74145579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:74145390-74146451	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
FAM169A	TF binding region

Extended variants
information (count: 113 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10062244	0.82[ASN][1000 genomes]
rs1043968	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10515191	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11556477	0.80[ASN][1000 genomes]
rs11739122	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11740871	0.83[ASN][1000 genomes]
rs11741789	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741825	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11742460	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11742773	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11746702	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11747965	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11749137	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11948188	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11955898	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1350097	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1447453	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531103	0.83[ASN][1000 genomes]
rs15694	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16872297	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16872299	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16872346	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16872347	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872364	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670867	0.80[ASN][1000 genomes]
rs17670897	0.80[ASN][1000 genomes]
rs17670975	0.83[ASN][1000 genomes]
rs17671140	0.83[ASN][1000 genomes]
rs17738266	0.80[ASN][1000 genomes]
rs17738565	0.83[ASN][1000 genomes]
rs17738645	0.83[ASN][1000 genomes]
rs17738674	0.83[ASN][1000 genomes]
rs1812122	0.96[ASN][1000 genomes]
rs1992712	0.83[ASN][1000 genomes]
rs1993370	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993372	0.83[ASN][1000 genomes]
rs2044410	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061162	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084115	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2084116	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2084118	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2084119	0.80[ASN][1000 genomes]
rs2100033	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2166361	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2314936	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2314937	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34496480	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3733794	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4425487	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4594835	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5020673	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55870102	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56068548	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56202905	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276104	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56365996	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58184895	0.83[ASN][1000 genomes]
rs58367004	0.83[ASN][1000 genomes]
rs59110717	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60663580	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62366408	0.85[EUR][1000 genomes]
rs62366413	0.80[ASN][1000 genomes]
rs62366414	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366415	0.80[ASN][1000 genomes]
rs62366416	0.80[ASN][1000 genomes]
rs62366417	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62366418	0.80[ASN][1000 genomes]
rs62366419	0.80[ASN][1000 genomes]
rs62366420	0.80[ASN][1000 genomes]
rs62366421	0.80[ASN][1000 genomes]
rs62366423	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366424	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366426	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366450	0.83[ASN][1000 genomes]
rs62366453	0.83[ASN][1000 genomes]
rs62366454	0.83[ASN][1000 genomes]
rs62366455	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366456	0.82[ASN][1000 genomes]
rs62366457	0.83[ASN][1000 genomes]
rs62366458	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366459	0.83[ASN][1000 genomes]
rs62367762	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62367765	0.83[ASN][1000 genomes]
rs62367766	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453084	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6453086	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6453087	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6859014	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6861730	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6863738	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6866082	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6873067	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874094	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6874609	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6877116	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6877442	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879781	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6882499	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6883061	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6884843	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885093	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6885675	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6890815	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6897698	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897904	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764666	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72764681	0.83[ASN][1000 genomes]
rs73120619	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7708203	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7717223	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7724292	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728889	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686657	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs16872333	NSA2	cis	Skin Sun Exposed Lower leg	GTEx
rs16872333	TINP1	Cis_1M	lymphoblastoid	RTeQTL
rs16872333	NSA2	cis	Artery Aorta	GTEx
rs16872333	NSA2	cis	Nerve Tibial	GTEx
rs16872333	NSA2	cis	Whole Blood	GTEx
rs16872333	NSA2	cis	Artery Tibial	GTEx
rs16872333	NSA2	cis	Adipose Subcutaneous	GTEx
rs16872333	NSA2	cis	Thyroid	GTEx
rs16872333	NSA2	cis	Esophagus Muscularis	GTEx
rs16872333	NSA2	cis	Stomach	GTEx
rs16872333	NSA2	cis	Muscle Skeletal	GTEx
rs16872333	NSA2	cis	Esophagus Mucosa	GTEx
rs16872333	NSA2	cis	lung	GTEx
rs16872333	NSA2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74069000-74153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:74095800-74146000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:74097400-74147400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:74116200-74146000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:74127400-74148000	Weak transcription	Brain Angular Gyrus	brain
6	chr5:74130600-74147000	Weak transcription	HMEC	breast
7	chr5:74132600-74146200	Weak transcription	NHEK	skin
8	chr5:74134800-74146200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:74135000-74146600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:74135000-74147000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:74135200-74147400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:74135400-74146800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:74135400-74146800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:74135400-74147000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:74135600-74145800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:74138400-74146200	Enhancers	HepG2	liver
17	chr5:74140200-74146800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:74140200-74157800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:74140600-74160000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:74142800-74151000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:74143000-74147400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:74143200-74147400	Weak transcription	NHDF-Ad	bronchial
23	chr5:74143600-74146000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:74143600-74149200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:74143800-74146200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:74143800-74146400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:74144200-74146200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr5:74144400-74146200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:74144400-74146200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:74144400-74147000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:74144400-74147400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:74144400-74147800	Enhancers	Brain Substantia Nigra	brain
33	chr5:74144400-74149400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:74144600-74145600	Enhancers	Brain Hippocampus Middle	brain
35	chr5:74144600-74146200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:74144600-74148800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:74144800-74145600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:74144800-74145800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:74144800-74146200	Enhancers	Brain Anterior Caudate	brain
40	chr5:74144800-74146800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:74144800-74147200	Weak transcription	A549	lung
42	chr5:74145000-74145600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:74145000-74145800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:74145000-74146200	Enhancers	Brain Cingulate Gyrus	brain
45	chr5:74145000-74146800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:74145200-74146800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:74145400-74145600	Enhancers	Primary T helper cells PMA-I stimulated	--

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