Variant report

Variant	rs6703452
Chromosome Location	chr1:45351128-45351129
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	chr1:45348967..45351344-chr1:45356459..45358965,2	K562	blood:
2	chr1:45284000..45285938-chr1:45349636..45351440,2	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10890313	0.93[CEU][hapmap]
rs11211025	0.92[CEU][hapmap]
rs11211026	0.93[CEU][hapmap]
rs11211036	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11211038	0.90[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.95[TSI][hapmap];0.86[ASN][1000 genomes]
rs11211040	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211045	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11211048	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11211051	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211053	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11211066	0.85[CHD][hapmap]
rs1140279	0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs11556200	0.84[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs11573542	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11573557	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11573559	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11573562	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11573592	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11584440	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap];0.89[ASN][1000 genomes]
rs11801990	0.89[CHB][hapmap]
rs11803622	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];0.81[TSI][hapmap]
rs11806832	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11809931	0.83[ASN][1000 genomes]
rs12125367	0.84[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs12126314	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs12126318	0.84[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs12126557	0.84[CEU][hapmap]
rs12139143	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144152	0.81[ASN][1000 genomes]
rs12569156	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12723764	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12729917	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12732939	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs12733586	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12735038	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12735637	0.84[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs12738360	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12738542	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs12741443	0.81[ASN][1000 genomes]
rs12746270	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs12749130	0.84[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs12755554	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs13948	0.85[CHD][hapmap]
rs16832227	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs16832263	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.96[GIH][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832265	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17881698	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap];0.89[ASN][1000 genomes]
rs17883049	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.89[ASN][1000 genomes]
rs17886118	0.89[ASN][1000 genomes]
rs183809	0.84[CHB][hapmap]
rs2236576	0.85[CHD][hapmap]
rs2295997	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2295998	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2295999	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs263989	0.84[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap]
rs263991	0.84[CHB][hapmap]
rs263992	0.83[CHB][hapmap]
rs264022	0.84[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap]
rs264025	0.84[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap]
rs34436945	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34506400	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34541568	0.82[ASN][1000 genomes]
rs34639510	0.87[ASN][1000 genomes]
rs34984079	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35343809	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35957134	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs364482	0.84[CHB][hapmap];0.96[CHD][hapmap]
rs3795713	0.80[ASN][1000 genomes]
rs3795714	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs3795719	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3806405	0.85[CHD][hapmap]
rs3820586	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.86[TSI][hapmap]
rs4342887	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs4399199	0.84[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs6429549	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6429550	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6676749	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap];0.87[ASN][1000 genomes]
rs6678726	0.82[CHD][hapmap]
rs6689911	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs6692487	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6692713	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs6697153	0.83[ASN][1000 genomes]
rs67408784	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7517439	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7517639	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7525733	0.85[CHD][hapmap]
rs7527787	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7528461	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7531019	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7534487	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap]
rs7535347	0.85[CHD][hapmap]
rs7536078	0.89[CHB][hapmap]
rs7541207	0.85[CHD][hapmap]
rs7546285	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs7553658	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs8681	0.85[CHD][hapmap]
rs998418	0.85[CHD][hapmap]

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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs6703452	UROD	cis	Adipose Subcutaneous	GTEx
rs6703452	SNORD55	cis	parietal	SCAN
rs6703452	ZNF691	cis	cerebellum	SCAN
rs6703452	SNORD55	cis	cerebellum	SCAN
rs6703452	UROD	cis	Artery Tibial	GTEx
rs6703452	UROD	cis	Esophagus Muscularis	GTEx
rs6703452	EIF2B3	cis	cerebellum	SCAN
rs6703452	TIE1	cis	parietal	SCAN
rs6703452	UROD	cis	lung	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:45309600-45352400	Weak transcription	Fetal Heart	heart
3	chr1:45309600-45354200	Weak transcription	Fetal Brain Male	brain
4	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
5	chr1:45316600-45351800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:45317800-45355600	Weak transcription	NHDF-Ad	bronchial
7	chr1:45322600-45360000	Weak transcription	Small Intestine	intestine
8	chr1:45331200-45352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:45331600-45352400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:45332600-45357200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:45333400-45357000	Weak transcription	Fetal Kidney	kidney
12	chr1:45334600-45371800	Weak transcription	Gastric	stomach
13	chr1:45337400-45355600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:45340800-45361800	Weak transcription	Aorta	Aorta
15	chr1:45341200-45352200	Weak transcription	Fetal Lung	lung
16	chr1:45341200-45354000	Weak transcription	Stomach Mucosa	stomach
17	chr1:45341200-45355600	Weak transcription	NHLF	lung
18	chr1:45341400-45354800	Weak transcription	Psoas Muscle	Psoas
19	chr1:45344000-45352200	Weak transcription	HepG2	liver
20	chr1:45345600-45366200	Weak transcription	Esophagus	oesophagus
21	chr1:45345800-45363600	Weak transcription	Colonic Mucosa	Colon
22	chr1:45346000-45352400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:45346200-45353800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:45346200-45359200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:45346400-45363200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:45347400-45352200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:45347600-45352200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:45347600-45353400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:45347600-45353800	Weak transcription	HSMMtube	muscle
30	chr1:45347600-45353800	Weak transcription	Osteobl	bone
31	chr1:45347600-45354400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:45347600-45356400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:45347600-45358800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:45347600-45360400	Weak transcription	HMEC	breast
35	chr1:45347600-45362600	Weak transcription	Lung	lung
36	chr1:45347600-45410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:45347800-45352200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:45348000-45353000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:45348000-45360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:45348200-45352400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:45348200-45352800	Weak transcription	NHEK	skin
42	chr1:45349000-45357000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:45349400-45351400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:45349600-45352200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:45349600-45352200	Weak transcription	HSMM	muscle
46	chr1:45349600-45353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:45349600-45358400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:45349600-45360000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:45349800-45351800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:45349800-45352200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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