Variant report

Variant	rs17886118
Chromosome Location	chr1:45271912-45271913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:45270630-45276680	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:45270664-45274484	K562	blood:	n/a	n/a
3	POLR2A	chr1:45271785-45271954	HepG2	liver:	n/a	n/a
4	TCF3	chr1:45271636-45272044	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:45270697-45276683	GM12892	blood:	n/a	n/a
6	POLR2A	chr1:45270869-45271959	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:45270657-45276553	K562	blood:	n/a	n/a
8	CTCF	chr1:45271810-45272102	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:45271642-45272014	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:45270864-45276511	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr1:45271904-45272038	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:45271623-45272378	GM12878	blood:	n/a	n/a
13	CTCF	chr1:45271747-45272036	K562	blood:	n/a	n/a
14	POLR2A	chr1:45271639-45276486	HL-60	blood:	n/a	n/a
15	ZBTB33	chr1:45271598-45272070	K562	blood:	n/a	n/a
16	POLR2A	chr1:45271600-45272018	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr1:45270671-45276445	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:45270669-45276523	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:45271603-45272073	GM12891	blood:	n/a	n/a
20	POLR2A	chr1:45271526-45276700	GM12892	blood:	n/a	n/a
21	POLR2A	chr1:45271616-45272102	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:45271711-45272022	A549	lung:	n/a	n/a
23	POLR2A	chr1:45271676-45272035	K562	blood:	n/a	n/a
24	CTCF	chr1:45271689-45272132	K562	blood:	n/a	n/a
25	POLR2A	chr1:45271726-45275377	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr1:45271723-45272240	K562	blood:	n/a	n/a
27	RAD21	chr1:45271774-45272123	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:45271682-45272036	A549	lung:	n/a	n/a
29	POLR2A	chr1:45271548-45272071	GM12892	blood:	n/a	n/a
30	POLR2A	chr1:45270812-45279067	A549	lung:	n/a	n/a
31	HMGN3	chr1:45271768-45272357	K562	blood:	n/a	n/a
32	POLR2A	chr1:45271537-45271966	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:45271828-45271943	HUVEC	blood vessel:	n/a	n/a
34	CCNT2	chr1:45271726-45272332	K562	blood:	n/a	n/a
35	POLR2A	chr1:45271865-45272004	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:45271662-45272005	A549	lung:	n/a	n/a
37	POLR2A	chr1:45271694-45271999	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:45270835-45276545	HepG2	liver:	n/a	n/a
39	POLR2A	chr1:45271521-45271993	GM12891	blood:	n/a	n/a
40	POLR2A	chr1:45271647-45272042	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr1:45270830-45275028	HCT-116	colon:	n/a	n/a
42	POLR2A	chr1:45270749-45275616	K562	blood:	n/a	n/a
43	POLR2A	chr1:45271757-45271957	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr1:45271533-45272327	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr1:45271648-45272071	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:45271619..45273419-chr1:46014827..46017277,2	K562	blood:
2	chr1:45184399..45189674-chr1:45270870..45279135,15	MCF-7	breast:
3	chr1:45248400..45253844-chr1:45268438..45273783,8	MCF-7	breast:
4	chr1:45268954..45275189-chr1:45475024..45480055,7	K562	blood:
5	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
6	chr1:45271675..45274360-chr1:46048607..46050864,2	K562	blood:
7	chr1:45194189..45198394-chr1:45270401..45277394,13	MCF-7	breast:
8	chr1:45269727..45273120-chr1:45475175..45479286,6	K562	blood:
9	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
10	chr1:45271433..45273539-chr1:45450490..45453055,2	K562	blood:
11	chr1:45270955..45271946-chr17:58041780..58042468,2	Hela-S3	cervix:
12	chr1:45186115..45188704-chr1:45270219..45273209,3	MCF-7	breast:
13	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

No data

Variant related genes	Relation type
BTBD19	TF binding region
ENSG00000234093	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000267302	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000189050	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11211036	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211038	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11211040	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11211045	0.92[ASN][1000 genomes]
rs11211048	0.92[ASN][1000 genomes]
rs11211051	0.89[ASN][1000 genomes]
rs1140279	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11573542	0.93[ASN][1000 genomes]
rs11573557	0.89[ASN][1000 genomes]
rs11573559	0.89[ASN][1000 genomes]
rs11573562	0.89[ASN][1000 genomes]
rs11573592	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11578233	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11580010	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11580159	0.83[ASN][1000 genomes]
rs11582718	0.87[ASN][1000 genomes]
rs11584440	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11801990	0.82[ASN][1000 genomes]
rs11803622	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11806832	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11809931	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12139143	0.89[ASN][1000 genomes]
rs12566610	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12569156	0.92[ASN][1000 genomes]
rs12723764	0.92[ASN][1000 genomes]
rs12729917	0.89[ASN][1000 genomes]
rs12732939	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12733586	0.91[ASN][1000 genomes]
rs12733796	0.89[ASN][1000 genomes]
rs12735038	0.92[ASN][1000 genomes]
rs12738360	0.92[ASN][1000 genomes]
rs12741443	0.90[ASN][1000 genomes]
rs12746270	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16832227	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16832263	0.89[ASN][1000 genomes]
rs16832265	0.92[ASN][1000 genomes]
rs17881698	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17883049	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295997	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2295998	0.93[ASN][1000 genomes]
rs2295999	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34436945	0.89[ASN][1000 genomes]
rs34541568	0.91[ASN][1000 genomes]
rs34639510	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34984079	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35343809	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35932693	0.85[ASN][1000 genomes]
rs35957134	0.92[ASN][1000 genomes]
rs3795713	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3795714	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3795719	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3820586	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4342887	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57995027	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59366549	0.87[ASN][1000 genomes]
rs59788723	0.84[ASN][1000 genomes]
rs6429549	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6429550	0.92[ASN][1000 genomes]
rs6670449	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6676749	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6689911	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6692487	0.92[ASN][1000 genomes]
rs6695350	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6697153	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6702415	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6703452	0.89[ASN][1000 genomes]
rs6704436	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67408784	0.93[ASN][1000 genomes]
rs67742332	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7517439	0.92[ASN][1000 genomes]
rs7517639	0.92[ASN][1000 genomes]
rs7527787	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7528461	0.92[ASN][1000 genomes]
rs7534487	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7536078	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7539538	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7546285	0.83[EUR][1000 genomes];0.86[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	nsv870876	chr1:45264545-45273531	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
14	esv3354434	chr1:45269765-45274063	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases
15	esv3340963	chr1:45270390-45273238	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17886118	UROD	cis	Artery Tibial	GTEx
rs17886118	UROD	cis	Adipose Subcutaneous	GTEx
rs17886118	UROD	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45265600-45276600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:45266600-45276400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:45266800-45272600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:45267400-45272800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
5	chr1:45267600-45272800	Genic enhancers	Spleen	Spleen
6	chr1:45267800-45272000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:45268000-45272400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:45268200-45272200	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr1:45268200-45272200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:45268200-45272400	Genic enhancers	Pancreas	Pancrea
11	chr1:45268200-45272400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:45268200-45272400	Genic enhancers	Stomach Smooth Muscle	stomach
13	chr1:45268200-45272600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:45268200-45272600	Genic enhancers	Lung	lung
15	chr1:45268200-45274200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:45268400-45272400	Strong transcription	Fetal Stomach	stomach
17	chr1:45268400-45272600	Genic enhancers	Right Ventricle	heart
18	chr1:45268400-45272800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:45268400-45272800	Genic enhancers	Placenta	Placenta
20	chr1:45268400-45272800	Strong transcription	Dnd41	blood
21	chr1:45268400-45273200	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr1:45268600-45272000	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr1:45268600-45272000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr1:45268600-45272200	Strong transcription	Fetal Intestine Large	intestine
25	chr1:45268600-45272200	Strong transcription	K562	blood
26	chr1:45268600-45272400	Strong transcription	Thymus	Thymus
27	chr1:45268600-45272400	Genic enhancers	HUVEC	blood vessel
28	chr1:45268600-45272400	Genic enhancers	NHDF-Ad	bronchial
29	chr1:45268600-45272800	Genic enhancers	Primary T cells from cord blood	blood
30	chr1:45268600-45272800	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr1:45268600-45273200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:45268600-45273200	Genic enhancers	Fetal Muscle Leg	muscle
33	chr1:45268800-45272000	Genic enhancers	HMEC	breast
34	chr1:45268800-45272200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:45268800-45272200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:45268800-45272200	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr1:45268800-45272200	Strong transcription	Fetal Intestine Small	intestine
38	chr1:45268800-45272400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:45268800-45272400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:45268800-45272600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:45268800-45272800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:45269000-45272400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:45269000-45272400	Weak transcription	Fetal Kidney	kidney
44	chr1:45269000-45272600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr1:45269000-45272600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:45269000-45272600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:45269200-45272000	Weak transcription	Small Intestine	intestine
48	chr1:45269200-45272400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:45269200-45272400	Genic enhancers	Muscle Satellite Cultured Cells	--
50	chr1:45269200-45272400	Strong transcription	Colon Smooth Muscle	Colon

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