Variant report

Variant	rs6688723
Chromosome Location	chr1:45763542-45763543
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45476319..45479273-chr1:45762744..45765021,2	MCF-7	breast:
2	chr1:45747656..45749487-chr1:45762522..45765596,3	K562	blood:
3	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
4	chr1:45747190..45749487-chr1:45762522..45764661,3	K562	blood:
5	chr1:45761540..45764503-chr1:45766248..45768946,2	K562	blood:
6	chr1:45761109..45763795-chr1:45769192..45770940,3	K562	blood:
7	chr1:45184599..45187885-chr1:45762943..45766358,4	K562	blood:
8	chr1:45763106..45764734-chr1:45769949..45772250,2	MCF-7	breast:
9	chr1:45284741..45287398-chr1:45762792..45766811,5	K562	blood:
10	chr1:45761061..45765465-chr1:45766442..45769712,4	MCF-7	breast:
11	chr1:45266060..45268077-chr1:45763524..45765330,2	K562	blood:
12	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:
13	chr1:45761163..45763441-chr1:45763531..45765423,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173846	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000126107	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11211091	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11586623	1.00[EUR][1000 genomes]
rs1226749	0.85[GIH][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap]
rs1698295	0.85[GIH][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap]
rs1938298	0.85[EUR][1000 genomes]
rs1938302	0.85[GIH][hapmap];0.92[TSI][hapmap]
rs2096436	0.85[EUR][1000 genomes]
rs2096437	0.84[EUR][1000 genomes]
rs28402283	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28664913	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28704653	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009973	0.85[GIH][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap]
rs3121768	0.85[EUR][1000 genomes]
rs3121771	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3128442	0.80[AFR][1000 genomes]
rs6429564	0.88[ASW][hapmap];0.89[YRI][hapmap]
rs7548931	0.80[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv3406025	chr1:45739908-45763848	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6688723	UROD	cis	multi-tissue	Pritchard

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45757800-45763800	Weak transcription	K562	blood
2	chr1:45760400-45764400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:45761800-45764400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:45762600-45768400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:45763000-45764000	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:45763000-45764400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:45763000-45764600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:45763000-45765400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:45763000-45766400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:45763200-45763600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:45763200-45763800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:45763200-45763800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:45763200-45764000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:45763200-45764400	Enhancers	Brain Anterior Caudate	brain
15	chr1:45763200-45764400	Flanking Active TSS	HepG2	liver
16	chr1:45763200-45764600	Enhancers	Fetal Intestine Large	intestine
17	chr1:45763200-45764600	Enhancers	Fetal Intestine Small	intestine
18	chr1:45763200-45765400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:45763200-45766400	Enhancers	Brain Germinal Matrix	brain
20	chr1:45763200-45768400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:45763400-45763600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:45763400-45763800	Enhancers	Brain Angular Gyrus	brain
23	chr1:45763400-45763800	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr1:45763400-45764200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:45763400-45764400	Enhancers	Liver	Liver
26	chr1:45763400-45764400	Enhancers	Brain Hippocampus Middle	brain
27	chr1:45763400-45765000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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