Variant report

Variant	rs8064556
Chromosome Location	chr17:34009396-34009397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1049379	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12150359	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12949341	0.86[ASN][1000 genomes]
rs1476553	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs161182	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs161183	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs161184	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1634684	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs170483	0.84[ASN][1000 genomes]
rs178649	0.85[EUR][1000 genomes]
rs225245	0.81[EUR][1000 genomes]
rs225255	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225269	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs225272	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs225273	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs225281	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs225282	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs225284	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs225290	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs225293	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs225297	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs225299	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs225302	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs226085	0.84[ASN][1000 genomes]
rs226086	0.86[ASN][1000 genomes]
rs226088	0.86[ASN][1000 genomes]
rs226428	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs226432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs226434	0.84[ASN][1000 genomes]
rs226439	0.84[ASN][1000 genomes]
rs226441	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2285742	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2301730	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs321599	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs321601	0.81[EUR][1000 genomes]
rs321617	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs321618	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3890901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4795085	0.86[EUR][1000 genomes]
rs4796103	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6505489	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6505490	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6505491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6505492	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6505493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67296463	0.84[ASN][1000 genomes]
rs71366475	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs720774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7217565	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7221081	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7221096	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7406966	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8067294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8073375	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078905	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9635770	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8064556	AP2B1	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:33975000-34025800	Strong transcription	Primary B cells from peripheral blood	blood
7	chr17:33977200-34010400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr17:33979400-34016600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:33992800-34028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:33994800-34010600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:33995800-34024600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:33996000-34010800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr17:33997000-34010400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:33997400-34023200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:33997600-34024600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr17:33999400-34043400	Weak transcription	Fetal Brain Male	brain
17	chr17:33999600-34018200	Weak transcription	Fetal Kidney	kidney
18	chr17:33999800-34010600	Weak transcription	Psoas Muscle	Psoas
19	chr17:34000000-34014200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr17:34001800-34009600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:34001800-34009600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr17:34001800-34009600	Weak transcription	Aorta	Aorta
23	chr17:34001800-34009600	Weak transcription	Gastric	stomach
24	chr17:34001800-34010800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr17:34001800-34014000	Weak transcription	Right Ventricle	heart
26	chr17:34001800-34014800	Weak transcription	Brain Substantia Nigra	brain
27	chr17:34001800-34018200	Weak transcription	Esophagus	oesophagus
28	chr17:34002000-34009600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr17:34002000-34010000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr17:34002000-34010400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:34002000-34010600	Weak transcription	HSMMtube	muscle
32	chr17:34002000-34017400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr17:34002000-34032200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr17:34002000-34036800	Weak transcription	Colonic Mucosa	Colon
35	chr17:34002200-34010200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr17:34002200-34011600	Weak transcription	HepG2	liver
37	chr17:34002200-34014600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr17:34002200-34015000	Weak transcription	HUVEC	blood vessel
39	chr17:34002200-34017000	Weak transcription	Brain Angular Gyrus	brain
40	chr17:34002400-34009600	Weak transcription	NHLF	lung
41	chr17:34002400-34009800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr17:34002400-34010000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr17:34002400-34013200	Weak transcription	Brain Germinal Matrix	brain
44	chr17:34002600-34009600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr17:34002800-34010200	Weak transcription	K562	blood
46	chr17:34003800-34010600	Weak transcription	Primary B cells from cord blood	blood
47	chr17:34004600-34011800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:34004800-34016800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:34005400-34010400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr17:34005400-34011400	Strong transcription	Fetal Lung	lung

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