Variant report

Variant	rs1964030
Chromosome Location	chr1:45465832-45465833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45465440..45468490-chr1:45474969..45479261,5	MCF-7	breast:
2	chr1:45465674..45468338-chr1:45474492..45477550,3	MCF-7	breast:
3	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
4	chr1:45464897..45467807-chr1:46048643..46051283,4	K562	blood:
5	chr1:45450854..45457330-chr1:45465047..45472849,14	K562	blood:
6	chr1:45258952..45260849-chr1:45465146..45466652,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117425	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000232369	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10890319	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12047556	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12094272	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298006	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4660290	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4660830	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6666806	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6671633	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7521006	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7537361	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1964030	UROD	cis	Adipose Subcutaneous	GTEx
rs1964030	UROD	cis	Artery Tibial	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45452800-45466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:45452800-45467800	Weak transcription	Osteobl	bone
3	chr1:45452800-45475200	Weak transcription	Right Atrium	heart
4	chr1:45454600-45467800	Weak transcription	K562	blood
5	chr1:45459800-45466400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:45459800-45468400	Weak transcription	Fetal Lung	lung
7	chr1:45460200-45467600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:45460400-45466000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:45460600-45467000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:45460800-45468400	Weak transcription	HepG2	liver
11	chr1:45463400-45466600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:45463800-45466800	Weak transcription	Fetal Stomach	stomach
13	chr1:45464000-45466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:45464200-45466600	Weak transcription	Fetal Brain Female	brain
15	chr1:45464400-45466800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:45464400-45466800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:45464400-45467200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:45464400-45467400	Weak transcription	Esophagus	oesophagus
19	chr1:45464400-45467600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:45464600-45466800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:45464600-45467000	Weak transcription	Colonic Mucosa	Colon
22	chr1:45464600-45468000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:45464800-45467000	Weak transcription	NHLF	lung
24	chr1:45464800-45467400	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:45464800-45467600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:45464800-45467600	Weak transcription	Ovary	ovary
27	chr1:45464800-45467800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:45464800-45468600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:45465000-45466400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:45465000-45467400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:45465000-45467600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:45465000-45467600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:45465000-45467600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:45465000-45467600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:45465000-45470200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:45465200-45466200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:45465200-45467000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:45465200-45467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:45465200-45467600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:45465200-45467800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:45465400-45466600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:45465400-45467400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:45465400-45467600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:45465400-45467600	Weak transcription	Brain Angular Gyrus	brain
45	chr1:45465400-45467600	Weak transcription	Brain Anterior Caudate	brain
46	chr1:45465400-45467600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:45465400-45467600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:45465400-45467600	Weak transcription	Thymus	Thymus
49	chr1:45465400-45467800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:45465400-45467800	Weak transcription	NH-A	brain

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