Variant report

Variant	rs11806832
Chromosome Location	chr1:45281768-45281769
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45246681..45259677-chr1:45281336..45290057,25	MCF-7	breast:
2	chr1:45183794..45190315-chr1:45281186..45287888,32	MCF-7	breast:
3	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
4	chr1:45279599..45282542-chr1:45767964..45769557,2	K562	blood:
5	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
6	chr1:45193443..45200768-chr1:45280884..45289784,25	MCF-7	breast:
7	chr1:45280595..45282374-chr1:45476299..45478541,2	MCF-7	breast:
8	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
9	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
10	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
11	chr1:45281654..45283302-chr1:45765117..45767703,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000126107	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000142937	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11211036	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211038	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11211040	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11211045	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11211048	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11211051	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11211053	0.82[EUR][1000 genomes]
rs1140279	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11573542	0.93[ASN][1000 genomes]
rs11573557	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11573559	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11573562	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11573592	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11578233	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11580010	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11580159	0.81[ASN][1000 genomes]
rs11582718	0.85[ASN][1000 genomes]
rs11584440	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11801990	0.81[ASN][1000 genomes]
rs11803622	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11809931	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12139143	0.90[ASN][1000 genomes]
rs12566610	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12569156	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12723764	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12729917	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12732939	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12733586	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12733796	0.87[ASN][1000 genomes]
rs12735038	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12738360	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12741443	0.89[ASN][1000 genomes]
rs12746270	0.88[ASN][1000 genomes]
rs16832227	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16832263	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832265	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17881698	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17883049	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17886118	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295997	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295998	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2295999	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34436945	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34506400	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34541568	0.89[ASN][1000 genomes]
rs34639510	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34984079	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35343809	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35932693	0.84[ASN][1000 genomes]
rs35957134	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3795713	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3795714	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3795719	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3820586	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4342887	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57995027	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59366549	0.85[ASN][1000 genomes]
rs59788723	0.82[ASN][1000 genomes]
rs6429549	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6429550	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6670449	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6676749	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6689911	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6692487	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6695350	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6697153	0.90[ASN][1000 genomes]
rs6702415	0.87[ASN][1000 genomes]
rs6703452	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6704436	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67408784	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67742332	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7517439	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7517639	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7527787	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7528461	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7531019	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7534487	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7536078	0.80[ASN][1000 genomes]
rs7539538	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7546285	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
12	esv3319924	chr1:45278921-45283844	Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	esv3445770	chr1:45278947-45283870	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	esv3424987	chr1:45278957-45283908	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	esv3319923	chr1:45278961-45283796	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
16	esv3368947	chr1:45279001-45283774	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	esv3512041	chr1:45279006-45283809	Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
18	esv3512042	chr1:45279006-45283809	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	esv3319925	chr1:45279057-45283725	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
20	esv3411271	chr1:45281240-45283588	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11806832	UROD	cis	lung	GTEx
rs11806832	UROD	cis	Artery Tibial	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45277800-45282000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:45278000-45284800	Weak transcription	Hela-S3	cervix
3	chr1:45278200-45284800	Weak transcription	K562	blood
4	chr1:45279400-45284800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:45279400-45285000	Weak transcription	Fetal Heart	heart
6	chr1:45279600-45281800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:45279600-45281800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:45279600-45284800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:45279800-45281800	Genic enhancers	Placenta	Placenta
10	chr1:45279800-45283200	Weak transcription	Gastric	stomach
11	chr1:45279800-45283400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:45279800-45284000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:45279800-45284800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:45279800-45284800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:45279800-45284800	Weak transcription	Aorta	Aorta
16	chr1:45279800-45284800	Weak transcription	Brain Angular Gyrus	brain
17	chr1:45279800-45284800	Weak transcription	Pancreas	Pancrea
18	chr1:45279800-45284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:45279800-45285000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:45279800-45285000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:45279800-45285000	Weak transcription	Ovary	ovary
22	chr1:45279800-45285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:45279800-45285800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:45280000-45281800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:45280000-45283400	Weak transcription	Fetal Brain Male	brain
26	chr1:45280000-45283800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:45280000-45284000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:45280000-45284800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:45280000-45284800	Weak transcription	Primary T cells from cord blood	blood
30	chr1:45280000-45284800	Weak transcription	Adipose Nuclei	Adipose
31	chr1:45280000-45284800	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:45280000-45284800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:45280000-45285000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:45280200-45281800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:45280200-45283000	Weak transcription	Dnd41	blood
36	chr1:45280200-45283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:45280200-45284600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:45280200-45284800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:45280200-45284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:45280200-45284800	Weak transcription	Brain Anterior Caudate	brain
41	chr1:45280200-45284800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:45280200-45284800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:45280200-45284800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:45280200-45285000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:45280200-45285000	Weak transcription	Left Ventricle	heart
46	chr1:45280400-45281800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:45280400-45281800	Genic enhancers	NHEK	skin
48	chr1:45280400-45284800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:45280400-45284800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:45280600-45281800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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