Variant report

Variant	rs34639510
Chromosome Location	chr1:45262489-45262490
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr1:45262390-45262754	MCF10A-Er-Src	breast:	n/a	n/a
2	FOSL2	chr1:45262341-45262706	HepG2	liver:	n/a	chr1:45262521-45262532
3	JUN	chr1:45262251-45262913	K562	blood:	n/a	n/a
4	FOSL1	chr1:45262406-45262644	K562	blood:	n/a	chr1:45262520-45262531
5	FOS	chr1:45262357-45262756	MCF10A-Er-Src	breast:	n/a	n/a
6	FOSL2	chr1:45262381-45262754	HepG2	liver:	n/a	chr1:45262521-45262532
7	CBX3	chr1:45262401-45262799	K562	blood:	n/a	n/a
8	MAX	chr1:45262443-45262704	K562	blood:	n/a	n/a
9	FOSL2	chr1:45262393-45262804	A549	lung:	n/a	chr1:45262521-45262532
10	FOS	chr1:45262346-45262766	MCF10A-Er-Src	breast:	n/a	n/a
11	ATF3	chr1:45262326-45262686	K562	blood:	n/a	n/a
12	JUND	chr1:45262391-45262627	HepG2	liver:	n/a	chr1:45262520-45262531
13	JUN	chr1:45262475-45262518	K562	blood:	n/a	n/a
14	JUND	chr1:45262455-45262617	HepG2	liver:	n/a	chr1:45262520-45262531
15	SETDB1	chr1:45262339-45262917	U2OS	brain:	n/a	n/a
16	FOS	chr1:45262356-45262752	MCF10A-Er-Src	breast:	n/a	n/a
17	JUN	chr1:45262384-45262752	K562	blood:	n/a	n/a
18	JUND	chr1:45262265-45262719	HCT-116	colon:	n/a	chr1:45262520-45262531
19	FOSL1	chr1:45262387-45262703	K562	blood:	n/a	chr1:45262520-45262531
20	JUND	chr1:45262355-45262743	K562	blood:	n/a	chr1:45262520-45262531
21	KAP1	chr1:45262482-45262789	U2OS	brain:	n/a	n/a
22	JUND	chr1:45262390-45262672	HepG2	liver:	n/a	chr1:45262520-45262531

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:

Variant related genes	Relation type
PLK3	TF binding region
ENSG00000207421	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000225721	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11211036	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211038	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11211040	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211045	0.90[ASN][1000 genomes]
rs11211048	0.90[ASN][1000 genomes]
rs11211051	0.88[ASN][1000 genomes]
rs1140279	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11573542	0.89[ASN][1000 genomes]
rs11573557	0.87[ASN][1000 genomes]
rs11573559	0.87[ASN][1000 genomes]
rs11573562	0.87[ASN][1000 genomes]
rs11573592	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11578233	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11580010	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11580159	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11582718	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11584440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11800505	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11801990	0.85[ASN][1000 genomes]
rs11803622	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11806832	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11809931	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12139143	0.87[ASN][1000 genomes]
rs12566610	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12569156	0.90[ASN][1000 genomes]
rs12723764	0.90[ASN][1000 genomes]
rs12729917	0.87[ASN][1000 genomes]
rs12732939	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12733586	0.89[ASN][1000 genomes]
rs12733796	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12735038	0.90[ASN][1000 genomes]
rs12735728	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12738360	0.90[ASN][1000 genomes]
rs12741443	0.94[ASN][1000 genomes]
rs12746270	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16832227	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16832263	0.87[ASN][1000 genomes]
rs16832265	0.90[ASN][1000 genomes]
rs17881698	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17883049	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17886118	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295997	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2295998	0.91[ASN][1000 genomes]
rs2295999	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34436945	0.87[ASN][1000 genomes]
rs34541568	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34984079	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35343809	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35932693	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35957134	0.90[ASN][1000 genomes]
rs3795713	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3795714	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3795719	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3820586	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4342887	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57995027	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59366549	0.90[ASN][1000 genomes]
rs59788723	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6429549	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6429550	0.90[ASN][1000 genomes]
rs6670449	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6676749	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689911	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6692487	0.90[ASN][1000 genomes]
rs6695350	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6697153	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6702415	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6703452	0.87[ASN][1000 genomes]
rs6704436	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67408784	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67742332	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7517439	0.90[ASN][1000 genomes]
rs7517639	0.90[ASN][1000 genomes]
rs7527787	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7528461	0.90[ASN][1000 genomes]
rs7534487	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7536078	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7539538	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7546285	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv461406	chr1:45218542-45293518	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546145	chr1:45218542-45293518	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
9	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
10	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
11	nsv871320	chr1:45259295-45274841	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
12	nsv870773	chr1:45259295-45287306	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
13	esv3326402	chr1:45260190-45262738	Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
14	esv3408096	chr1:45260315-45263088	Weak transcription Enhancers	TF binding region Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
15	esv3373196	chr1:45260365-45262713	Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34639510	UROD	cis	lung	GTEx
rs34639510	UROD	cis	Artery Tibial	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45252400-45264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:45252400-45265200	Weak transcription	Right Atrium	heart
3	chr1:45252400-45265600	Weak transcription	Gastric	stomach
4	chr1:45252600-45264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:45256000-45264200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:45256000-45264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:45256000-45265200	Weak transcription	NHEK	skin
8	chr1:45257400-45264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:45259200-45265400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:45259200-45265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:45259400-45264000	Weak transcription	HepG2	liver
12	chr1:45259400-45264200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:45259400-45264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:45259400-45264200	Weak transcription	HMEC	breast
15	chr1:45259400-45264400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:45259400-45264400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:45259400-45264600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:45259400-45264600	Weak transcription	Hela-S3	cervix
19	chr1:45259400-45265200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:45259400-45265200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:45259400-45265400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:45259600-45264400	Weak transcription	A549	lung
23	chr1:45259600-45264600	Weak transcription	NH-A	brain
24	chr1:45259600-45264800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:45259600-45264800	Weak transcription	Esophagus	oesophagus
26	chr1:45259600-45265200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:45259600-45265200	Weak transcription	Osteobl	bone
28	chr1:45259800-45264200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:45259800-45265200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:45260600-45264200	Weak transcription	K562	blood
31	chr1:45261200-45265000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:45262200-45262600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:45262200-45262800	Enhancers	Placenta	Placenta
34	chr1:45262400-45262600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr1:45262400-45262800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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