Variant report

Variant	rs10743186
Chromosome Location	chr12:122356436-122356437
allele	C/T
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	POLR2A	chr12:122356258-122356617	U87	brain:	n/a	n/a
2	RFX5	chr12:122356172-122356935	H1-hESC	embryonic stem cell:	n/a	chr12:122356465-122356480 chr12:122356465-122356480 chr12:122356463-122356477 chr12:122356466-122356475 chr12:122356462-122356477 chr12:122356465-122356480 chr12:122356464-122356481
3	PML	chr12:122356075-122356690	MCF-7	breast:	n/a	n/a
4	POLR2A	chr12:122355807-122356649	K562	blood:	n/a	n/a
5	MXI1	chr12:122356108-122356838	GM12878	blood:	n/a	chr12:122356466-122356481
6	TBP	chr12:122356207-122356585	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:122356320-122356470	HEK293	kidney:	n/a	chr12:122356368-122356381
8	TAF1	chr12:122356244-122356635	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr12:122355934-122356856	HCT-116	colon:	n/a	chr12:122356083-122356093
10	CTCF	chr12:122356228-122356497	GM10266	blood:	n/a	chr12:122356368-122356381
11	CTCF	chr12:122356320-122356470	NHEK	skin:	n/a	chr12:122356368-122356381
12	RUNX3	chr12:122356125-122356640	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:122356237-122356609	H1-hESC	embryonic stem cell:	n/a	n/a
14	ELF1	chr12:122355817-122356839	GM12878	blood:	n/a	chr12:122356751-122356763 chr12:122356116-122356128 chr12:122356449-122356458
15	POLR2A	chr12:122355922-122356687	GM12892	blood:	n/a	n/a
16	RAD21	chr12:122355970-122356709	ECC-1	luminal epithelium:	n/a	chr12:122356083-122356093
17	EP300	chr12:122356034-122356566	GM12878	blood:	n/a	chr12:122356073-122356080
18	CTCF	chr12:122356164-122356524	Lung_OC	lung:	n/a	chr12:122356368-122356381
19	CTCF	chr12:122356360-122356510	GM12865	blood:	n/a	chr12:122356368-122356381
20	CTCF	chr12:122356320-122356470	GM12871	blood:	n/a	chr12:122356368-122356381
21	POLR2A	chr12:122356015-122356718	MCF-7	breast:	n/a	n/a
22	CTCF	chr12:122356241-122356506	GM19240	blood:	n/a	chr12:122356368-122356381
23	SRF	chr12:122355938-122356793	MCF-7	breast:	n/a	n/a
24	SRF	chr12:122356186-122356639	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr12:122356079-122356619	GM12878	blood:	n/a	n/a
26	RFX5	chr12:122355885-122356812	GM12878	blood:	n/a	chr12:122356465-122356480 chr12:122356465-122356480 chr12:122356463-122356477 chr12:122356466-122356475 chr12:122356462-122356477 chr12:122356465-122356480 chr12:122356464-122356481
27	CTCF	chr12:122356300-122356450	GM12869	blood:	n/a	chr12:122356368-122356381
28	RCOR1	chr12:122356202-122356635	GM12878	blood:	n/a	n/a
29	IRF3	chr12:122356405-122356496	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:122356155-122356789	HUVEC	blood vessel:	n/a	n/a
31	RAD21	chr12:122356115-122356967	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr12:122356300-122356450	AG09309	skin:	n/a	chr12:122356368-122356381
33	SRF	chr12:122356017-122356817	MCF-7	breast:	n/a	n/a
34	RUNX3	chr12:122356105-122356613	GM12878	blood:	n/a	n/a
35	ELF1	chr12:122356030-122356758	MCF-7	breast:	n/a	chr12:122356116-122356128 chr12:122356449-122356458
36	CREB1	chr12:122356127-122356731	GM12878	blood:	n/a	n/a
37	CTCF	chr12:122356300-122356450	HCT-116	colon:	n/a	chr12:122356368-122356381
38	ATF3	chr12:122356298-122356490	GM12878	blood:	n/a	chr12:122356408-122356428
39	FOXM1	chr12:122355991-122356613	GM12878	blood:	n/a	n/a
40	RFX5	chr12:122355894-122356806	IMR90	lung:	n/a	chr12:122356465-122356480 chr12:122356465-122356480 chr12:122356463-122356477 chr12:122356466-122356475 chr12:122356462-122356477 chr12:122356465-122356480 chr12:122356464-122356481
41	POLR2A	chr12:122356112-122356613	GM12892	blood:	n/a	n/a
42	CTCF	chr12:122356320-122356470	HFF	foreskin:	n/a	chr12:122356368-122356381
43	MTA3	chr12:122355977-122356634	GM12878	blood:	n/a	n/a
44	RAD21	chr12:122355967-122356801	HCT-116	colon:	n/a	chr12:122356083-122356093
45	TEAD4	chr12:122356186-122356630	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:122356223-122356515	Medullo	brain:	n/a	chr12:122356368-122356381
47	USF1	chr12:122356196-122356577	GM12878	blood:	n/a	chr12:122356406-122356419 chr12:122356408-122356417 chr12:122356409-122356418 chr12:122356407-122356416 chr12:122356408-122356417
48	USF1	chr12:122356027-122356810	HCT-116	colon:	n/a	chr12:122356750-122356766 chr12:122356406-122356419 chr12:122356408-122356417 chr12:122356409-122356418 chr12:122356407-122356416 chr12:122356408-122356417
49	POLR2A	chr12:122356191-122356724	HUVEC	blood vessel:	n/a	n/a
50	MAX	chr12:122355876-122356699	H1-hESC	embryonic stem cell:	n/a	chr12:122356113-122356120 chr12:122356408-122356417 chr12:122356466-122356475 chr12:122356632-122356641

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122356390-122356440	PANC-1	pancreas:	n/a
2	chr12:122356390-122356440	BJ	skin:	n/a
3	chr12:122356390-122356440	GM06990	blood:	n/a
4	chr12:122356400-122356450	HL-60	blood:	n/a
5	chr12:122356390-122356440	SAEC	small airway:	n/a
6	chr12:122356390-122356440	HCT-116	colon:	n/a
7	chr12:122356400-122356450	HRPEpiC	eye:	n/a
8	chr12:122356390-122356440	HUVEC	blood vessel:	n/a
9	chr12:122356400-122356450	HRCEpiC	kidney:	n/a
10	chr12:122356390-122356440	Hela-S3	cervix:	n/a
11	chr12:122356390-122356440	Caco-2	colon:	n/a
12	chr12:122356390-122356440	A549	lung:	n/a
13	chr12:122356400-122356450	ECC-1	luminal epithelium:	n/a
14	chr12:122356400-122356450	AoSMC	blood vessel:	n/a
15	chr12:122356400-122356450	MCF-7	breast:	n/a
16	chr12:122356400-122356450	HAEpiC	amniotic membrane:	n/a
17	chr12:122356400-122356450	T-47D	breast:	n/a
18	chr12:122356400-122356450	HCF	heart:	n/a
19	chr12:122356390-122356440	IMR90	lung:	fetal
20	chr12:122356390-122356440	MCF10A-Er-Src	breast:	n/a
21	chr12:122356400-122356450	IMR90	lung:	fetal
22	chr12:122356400-122356450	LNCaP	prostate:	n/a
23	chr12:122356400-122356450	HEK293	kidney:	embryo
24	chr12:122356390-122356440	AG04449	skin:	fetal
25	chr12:122356400-122356450	Caco-2	colon:	n/a
26	chr12:122356390-122356440	Hepatocyte	liver:	n/a
27	chr12:122356390-122356440	HCF	heart:	n/a
28	chr12:122356390-122356440	BE2_C	brain:	n/a
29	chr12:122356390-122356440	U87	brain:	n/a
30	chr12:122356400-122356450	NT2-D1	testis:	n/a
31	chr12:122356390-122356440	T-47D	breast:	n/a
32	chr12:122356390-122356440	NH-A	brain:	n/a
33	chr12:122356390-122356440	AG04450	lung:	fetal
34	chr12:122356400-122356450	NB4	blood:	n/a
35	chr12:122356400-122356450	AG10803	skin:	n/a
36	chr12:122356400-122356450	GM12878	blood:	n/a
37	chr12:122356390-122356440	HCPEpiC	choroid plexus:	n/a
38	chr12:122356390-122356440	AG10803	skin:	n/a
39	chr12:122356400-122356450	PANC-1	pancreas:	n/a
40	chr12:122356400-122356450	AG09309	skin:	n/a
41	chr12:122356400-122356450	SKMC	muscle:	n/a
42	chr12:122356390-122356440	HCM	heart:	n/a
43	chr12:122356390-122356440	HRCEpiC	kidney:	n/a
44	chr12:122356400-122356450	Hepatocyte	liver:	n/a
45	chr12:122356400-122356450	A549	lung:	n/a
46	chr12:122356390-122356440	MCF-7	breast:	n/a
47	chr12:122356390-122356440	HPAEpiC	pulmonary alveolar:	n/a
48	chr12:122356390-122356440	AoSMC	blood vessel:	n/a
49	chr12:122356400-122356450	ProgFib	skin:	n/a
50	chr12:122356400-122356450	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122352837..122354864-chr12:122355521..122357983,3	MCF-7	breast:
2	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
3	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
4	chr12:122353848..122356586-chr12:122614343..122616936,2	MCF-7	breast:
5	chr12:122325289..122328252-chr12:122355129..122358130,3	MCF-7	breast:
6	chr12:122239660..122241230-chr12:122355073..122357147,2	MCF-7	breast:
7	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
8	chr12:122343793..122346484-chr12:122354637..122356922,2	MCF-7	breast:
9	chr12:122353628..122357829-chr12:122368964..122373628,4	MCF-7	breast:
10	chr12:122355691..122357856-chr12:122357924..122360707,2	MCF-7	breast:

Variant related genes	Relation type
WDR66	TF binding region
WDR66	CpG island
ENSG00000110801	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000255856	Chromatin interaction
ENSG00000239082	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10743187	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10770186	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11043241	0.84[EUR][1000 genomes]
rs11043250	0.81[ASN][1000 genomes]
rs1169072	0.81[EUR][1000 genomes]
rs6486781	0.91[EUR][1000 genomes]
rs6486782	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7971607	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10743186	WDR66	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122332000-122356600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:122341600-122356600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:122353600-122356600	Genic enhancers	HSMMtube	muscle
4	chr12:122353600-122356800	Strong transcription	A549	lung
5	chr12:122354200-122363000	Weak transcription	Small Intestine	intestine
6	chr12:122354800-122356600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:122355000-122357600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:122355000-122357600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:122355200-122357400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:122355600-122364800	Weak transcription	K562	blood
11	chr12:122355800-122356800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:122355800-122356800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr12:122355800-122357000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:122355800-122357000	Active TSS	Rectal Smooth Muscle	rectum
15	chr12:122355800-122357000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:122356000-122356600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:122356000-122356600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:122356000-122356600	Flanking Active TSS	Fetal Lung	lung
19	chr12:122356000-122356600	Active TSS	Right Atrium	heart
20	chr12:122356000-122356800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:122356000-122356800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr12:122356000-122356800	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr12:122356000-122356800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr12:122356000-122356800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr12:122356000-122356800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:122356000-122356800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr12:122356000-122356800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:122356000-122356800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:122356000-122356800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:122356000-122356800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:122356000-122356800	Flanking Active TSS	Liver	Liver
32	chr12:122356000-122356800	Enhancers	Fetal Heart	heart
33	chr12:122356000-122356800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
34	chr12:122356000-122356800	Flanking Active TSS	Right Ventricle	heart
35	chr12:122356000-122356800	Flanking Active TSS	GM12878-XiMat	blood
36	chr12:122356000-122357000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr12:122356000-122357000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr12:122356000-122357000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:122356000-122357000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:122356000-122357000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr12:122356000-122357000	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr12:122356000-122357000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr12:122356000-122357000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:122356000-122357000	Active TSS	Aorta	Aorta
45	chr12:122356000-122357000	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr12:122356000-122357000	Active TSS	Colon Smooth Muscle	Colon
47	chr12:122356000-122357000	Active TSS	Fetal Kidney	kidney
48	chr12:122356000-122357000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr12:122356000-122357000	Enhancers	Spleen	Spleen
50	chr12:122356000-122362600	Weak transcription	Hela-S3	cervix

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