Variant report

Variant	rs566063
Chromosome Location	chr1:45450835-45450836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45424939..45427483-chr1:45450541..45452158,2	K562	blood:
2	chr1:45443941..45446548-chr1:45450111..45452073,2	K562	blood:
3	chr1:45449901..45454181-chr1:45475970..45480540,16	K562	blood:
4	chr1:45283976..45287622-chr1:45450715..45458034,11	K562	blood:
5	chr1:45427848..45431686-chr1:45448944..45451154,3	K562	blood:
6	chr1:45450629..45452184-chr1:45572673..45575146,2	K562	blood:
7	chr1:45284059..45286396-chr1:45450000..45452623,4	MCF-7	breast:
8	chr1:45282917..45288387-chr1:45449365..45456835,12	K562	blood:
9	chr1:45239905..45242727-chr1:45449975..45452356,2	K562	blood:
10	chr1:45271433..45273539-chr1:45450490..45453055,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000142937	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10890316	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890317	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890318	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211059	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211060	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11556200	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11576875	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11586398	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11588468	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11802780	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11806079	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11811656	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12070692	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12082902	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12117191	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12117432	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12122911	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12122946	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12125188	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12125367	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12126314	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12126318	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12127012	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12127100	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12127262	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12133015	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12134146	0.83[AMR][1000 genomes]
rs12142881	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12144152	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1226360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1226361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12724852	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12725055	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12732402	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12735637	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12738406	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12738542	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12738586	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12740561	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12742371	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12749130	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12750107	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12755554	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12758547	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17393404	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs183809	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133503	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2275598	0.83[AMR][1000 genomes]
rs2275599	0.83[AMR][1000 genomes]
rs2487367	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263988	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263989	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263991	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263992	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs263994	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263996	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263997	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264021	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs264022	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264023	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264024	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs264025	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28409260	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs364482	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3806405	0.83[AMR][1000 genomes]
rs4399199	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs544144	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56875328	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659033	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6659777	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6678762	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6678769	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6692713	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67863058	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68175913	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7519454	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7525733	0.81[EUR][1000 genomes]
rs7535347	0.84[AMR][1000 genomes]
rs7553658	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8681	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	esv2830314	chr1:45430218-45455285	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs566063	UROD	cis	Adipose Subcutaneous	GTEx
rs566063	UROD	cis	Esophagus Muscularis	GTEx
rs566063	UROD	cis	Thyroid	GTEx
rs566063	UROD	cis	Artery Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45414000-45451000	Weak transcription	Spleen	Spleen
2	chr1:45433200-45451000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:45438000-45451000	Weak transcription	A549	lung
4	chr1:45438400-45451000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:45440400-45451400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:45441600-45451200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:45443200-45451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:45443400-45451000	Weak transcription	Right Atrium	heart
9	chr1:45443800-45451200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:45444200-45451000	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:45444200-45451000	Weak transcription	HSMMtube	muscle
12	chr1:45444600-45451000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:45444600-45451200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:45444600-45451200	Weak transcription	Left Ventricle	heart
15	chr1:45444800-45451000	Weak transcription	Pancreas	Pancrea
16	chr1:45444800-45451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:45445800-45451000	Weak transcription	Fetal Lung	lung
18	chr1:45446000-45451000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:45446000-45451200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:45446600-45451000	Weak transcription	Primary B cells from cord blood	blood
21	chr1:45446600-45451000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:45446600-45451000	Weak transcription	Thymus	Thymus
23	chr1:45446800-45451000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:45446800-45451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:45446800-45451000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:45446800-45451000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:45446800-45451000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:45446800-45451000	Weak transcription	Brain Germinal Matrix	brain
29	chr1:45446800-45451000	Weak transcription	Ovary	ovary
30	chr1:45446800-45451000	Weak transcription	Hela-S3	cervix
31	chr1:45446800-45451200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:45446800-45451200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:45446800-45451200	Weak transcription	Aorta	Aorta
34	chr1:45446800-45451200	Weak transcription	Esophagus	oesophagus
35	chr1:45446800-45451400	Weak transcription	Lung	lung
36	chr1:45447000-45451000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:45447000-45451000	Weak transcription	Fetal Brain Female	brain
38	chr1:45447000-45451000	Weak transcription	HSMM	muscle
39	chr1:45447000-45451000	Weak transcription	NH-A	brain
40	chr1:45447000-45451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:45447200-45451000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:45447200-45451000	Weak transcription	Brain Anterior Caudate	brain
43	chr1:45447200-45451000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:45447200-45451000	Weak transcription	Osteobl	bone
45	chr1:45447200-45451200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:45447200-45451200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:45447400-45451000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:45447400-45451000	Weak transcription	Placenta	Placenta
49	chr1:45447600-45451000	Weak transcription	Fetal Stomach	stomach
50	chr1:45448400-45451000	Weak transcription	Psoas Muscle	Psoas

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