Variant report

Variant	rs34506400
Chromosome Location	chr1:45363534-45363535
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	chr1:45283637..45285894-chr1:45360968..45364270,3	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11211040	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11211045	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211048	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211051	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11211053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211059	0.80[ASN][1000 genomes]
rs11573542	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11573557	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11573559	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11573562	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11573592	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11586398	0.83[ASN][1000 genomes]
rs11588468	0.86[ASN][1000 genomes]
rs11806832	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11811656	0.89[ASN][1000 genomes]
rs12117191	0.89[ASN][1000 genomes]
rs12117432	0.84[ASN][1000 genomes]
rs12122946	0.80[ASN][1000 genomes]
rs12125367	0.86[ASN][1000 genomes]
rs12127100	0.86[ASN][1000 genomes]
rs12127262	0.86[ASN][1000 genomes]
rs12139143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12144152	0.91[ASN][1000 genomes]
rs12569156	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12723764	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12725055	0.86[ASN][1000 genomes]
rs12729917	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12733586	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12735038	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12735637	0.86[ASN][1000 genomes]
rs12738360	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12738586	0.88[ASN][1000 genomes]
rs12740561	0.86[ASN][1000 genomes]
rs12742371	0.85[ASN][1000 genomes]
rs12755554	0.86[ASN][1000 genomes]
rs16832263	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16832265	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2133503	0.86[ASN][1000 genomes]
rs2295997	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2295998	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2295999	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34436945	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34984079	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35343809	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35957134	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3795719	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6429549	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6429550	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6692487	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6703452	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67408784	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68175913	0.86[ASN][1000 genomes]
rs7517439	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7517639	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7519454	0.80[ASN][1000 genomes]
rs7527787	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7528461	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7531019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34506400	UROD	cis	Esophagus Muscularis	GTEx
rs34506400	UROD	cis	Artery Tibial	GTEx
rs34506400	UROD	cis	lung	GTEx
rs34506400	UROD	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45334600-45371800	Weak transcription	Gastric	stomach
2	chr1:45345600-45366200	Weak transcription	Esophagus	oesophagus
3	chr1:45345800-45363600	Weak transcription	Colonic Mucosa	Colon
4	chr1:45347600-45410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:45350800-45364200	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:45350800-45369000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:45350800-45382400	Weak transcription	Pancreas	Pancrea
8	chr1:45350800-45411800	Weak transcription	Left Ventricle	heart
9	chr1:45353000-45374000	Weak transcription	Fetal Heart	heart
10	chr1:45355200-45366400	Weak transcription	Psoas Muscle	Psoas
11	chr1:45355600-45368200	Weak transcription	Fetal Stomach	stomach
12	chr1:45355800-45363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:45355800-45369000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:45355800-45411200	Weak transcription	Fetal Lung	lung
15	chr1:45356000-45363600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:45356000-45369000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:45356000-45373000	Weak transcription	Brain Anterior Caudate	brain
18	chr1:45356000-45407000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:45356000-45423800	Weak transcription	Thymus	Thymus
20	chr1:45356400-45390600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:45356600-45364000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:45356800-45374600	Weak transcription	Spleen	Spleen
23	chr1:45357200-45365000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:45357200-45388400	Weak transcription	Fetal Intestine Large	intestine
25	chr1:45357400-45364400	Weak transcription	Fetal Brain Male	brain
26	chr1:45357400-45365400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:45357400-45390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:45357400-45411800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:45357600-45365600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:45357600-45391600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:45357800-45368200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:45357800-45391000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:45358200-45368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:45358200-45396800	Weak transcription	Fetal Intestine Small	intestine
35	chr1:45359000-45369000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:45359000-45369000	Weak transcription	Fetal Kidney	kidney
37	chr1:45359000-45411800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:45359200-45364800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:45359200-45367200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:45359200-45369000	Weak transcription	HSMMtube	muscle
41	chr1:45359200-45390200	Weak transcription	HSMM	muscle
42	chr1:45359200-45390600	Weak transcription	Dnd41	blood
43	chr1:45359200-45396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:45359200-45423600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:45359400-45363800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:45359400-45368600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:45359400-45368600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:45360600-45410000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:45360800-45390400	Weak transcription	HMEC	breast
50	chr1:45360800-45396800	Weak transcription	Primary B cells from cord blood	blood

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