Variant report

Variant	rs13066
Chromosome Location	chr12:49960551-49960552
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49960113-49960575	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:49960449-49960866	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:49960058-49960570	GM12892	blood:	n/a	n/a
4	POLR2A	chr12:49960407-49960770	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:49960379-49960562	K562	blood:	n/a	n/a
6	POLR2A	chr12:49960074-49960955	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:49960072-49960560	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:49960066-49960813	K562	blood:	n/a	n/a
9	POLR2A	chr12:49960280-49960638	K562	blood:	n/a	n/a
10	HCFC1	chr12:49959960-49963116	Hela-S3	cervix:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49960207..49964959-chr12:50014167..50018580,9	MCF-7	breast:
2	chr12:49737598..49740843-chr12:49959274..49963250,5	K562	blood:
3	chr12:49667042..49668619-chr12:49959885..49961439,2	MCF-7	breast:
4	chr12:49930865..49935032-chr12:49959689..49963246,5	K562	blood:
5	chr12:49740266..49744152-chr12:49960185..49963713,4	MCF-7	breast:
6	chr12:49759487..49762377-chr12:49960316..49963479,6	K562	blood:
7	chr12:49960315..49962480-chr12:49993322..49995583,2	MCF-7	breast:
8	chr12:49937336..49938883-chr12:49959337..49961156,2	MCF-7	breast:
9	chr12:49959993..49964620-chr12:49965374..49976382,20	MCF-7	breast:
10	chr12:49931420..49936579-chr12:49960006..49963071,6	MCF-7	breast:
11	chr12:49915417..49918018-chr12:49960149..49961960,3	MCF-7	breast:
12	chr12:49958946..49963914-chr12:49967568..49975925,12	MCF-7	breast:
13	chr12:49934751..49937264-chr12:49959231..49961554,2	MCF-7	breast:
14	chr12:49960372..49963252-chr12:50011944..50013920,2	MCF-7	breast:
15	chr12:49960473..49963349-chr12:50134082..50137265,4	K562	blood:
16	chr12:49759658..49762377-chr12:49960316..49963047,2	K562	blood:
17	chr12:49760076..49762481-chr12:49958970..49962083,4	MCF-7	breast:
18	chr12:49715809..49718434-chr12:49958773..49962472,3	K562	blood:

No data

Variant related genes	Relation type
PRPF40B	TF binding region
MCRS1	TF binding region
ENSG00000258334	Chromatin interaction
ENSG00000135436	Chromatin interaction
ENSG00000257964	Chromatin interaction
ENSG00000178401	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000258104	Chromatin interaction
ENSG00000135451	Chromatin interaction
ENSG00000135519	Chromatin interaction
ENSG00000258232	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1049986	0.88[CEU][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10875964	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875968	0.81[ASN][1000 genomes]
rs11169063	0.86[ASN][1000 genomes]
rs11169065	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169069	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169070	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169073	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169076	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169080	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169081	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169082	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169092	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169097	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169104	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169106	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169109	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169111	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169112	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169113	0.82[EUR][1000 genomes]
rs11169118	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169125	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs11169127	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs11169133	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11833411	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11834380	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12296586	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12299505	0.88[CEU][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12299513	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12301824	0.82[EUR][1000 genomes]
rs12303310	0.83[ASN][1000 genomes]
rs12304796	0.83[EUR][1000 genomes]
rs12308256	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12309940	0.84[EUR][1000 genomes]
rs12310510	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12311527	0.94[ASN][1000 genomes]
rs12311839	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314795	0.87[CEU][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12314878	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315224	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12315791	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12316284	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12317646	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12320556	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321169	0.83[EUR][1000 genomes]
rs12321819	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13906	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470906	0.88[CEU][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1574326	0.88[CEU][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17123808	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902329	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1902330	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2005195	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241418	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278068	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278069	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278070	0.97[ASN][1000 genomes]
rs2303305	1.00[CEU][hapmap];0.97[ASN][1000 genomes]
rs2336058	0.88[CEU][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2878532	0.84[ASN][1000 genomes]
rs3815832	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887727	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3887728	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4045193	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4073998	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4133070	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4563	0.88[CEU][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4584654	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs52824916	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55853522	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57191490	0.80[ASN][1000 genomes]
rs57342147	0.83[ASN][1000 genomes]
rs57463238	0.82[EUR][1000 genomes]
rs57916875	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58278271	0.91[ASN][1000 genomes]
rs58446833	0.83[EUR][1000 genomes]
rs59233136	0.81[ASN][1000 genomes]
rs59849800	0.83[EUR][1000 genomes]
rs59940006	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60121503	0.80[ASN][1000 genomes]
rs60402517	0.84[EUR][1000 genomes]
rs61512987	0.84[ASN][1000 genomes]
rs61620972	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61710637	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6580719	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7131915	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132792	0.94[ASN][1000 genomes]
rs7136052	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7137976	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7296281	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299002	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7301209	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309607	0.81[ASN][1000 genomes]
rs7312658	0.81[ASN][1000 genomes]
rs7313738	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305012	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305085	0.81[ASN][1000 genomes]
rs73305098	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73306808	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73309030	0.83[EUR][1000 genomes]
rs74089182	0.80[ASN][1000 genomes]
rs7688	0.88[CEU][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7952734	0.88[CEU][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7952938	0.86[ASN][1000 genomes]
rs7953911	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954994	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7955586	0.81[ASN][1000 genomes]
rs7956089	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7956181	0.83[ASN][1000 genomes]
rs7962645	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7965658	0.97[ASN][1000 genomes]
rs7967624	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7970241	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973389	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975599	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977389	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979262	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979285	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7980979	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8626	0.84[ASN][1000 genomes]
rs876889	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs897056	0.81[ASN][1000 genomes]
rs933738	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9804749	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9804971	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49956800-49960600	Weak transcription	Fetal Kidney	kidney
2	chr12:49957000-49960600	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr12:49957200-49960600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:49957600-49960600	Genic enhancers	Right Ventricle	heart
5	chr12:49957800-49960800	Weak transcription	Primary B cells from cord blood	blood
6	chr12:49957800-49960800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:49957800-49960800	Enhancers	Fetal Heart	heart
8	chr12:49957800-49961000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:49958000-49960600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr12:49958000-49960600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:49958000-49960600	Genic enhancers	Fetal Muscle Leg	muscle
12	chr12:49958200-49960600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:49958200-49960600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:49958400-49961000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:49958600-49960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:49958600-49961000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:49958800-49960600	Enhancers	HSMMtube	muscle
18	chr12:49958800-49961200	Weak transcription	Aorta	Aorta
19	chr12:49959000-49960600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:49959000-49960600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:49959000-49960800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:49959200-49960600	Weak transcription	A549	lung
23	chr12:49959200-49960800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:49959200-49960800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:49959200-49960800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:49959200-49960800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:49959200-49960800	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:49959200-49961000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:49959400-49960800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:49959400-49960800	Enhancers	Primary T cells from cord blood	blood
31	chr12:49959400-49960800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:49959400-49961000	Enhancers	Left Ventricle	heart
33	chr12:49959600-49960600	Weak transcription	Fetal Lung	lung
34	chr12:49959600-49960600	Genic enhancers	Placenta	Placenta
35	chr12:49959600-49960600	Enhancers	Psoas Muscle	Psoas
36	chr12:49959600-49960600	Enhancers	Right Atrium	heart
37	chr12:49959800-49960600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:49959800-49960600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:49959800-49960600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:49959800-49960800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:49959800-49960800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:49959800-49960800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr12:49959800-49960800	Enhancers	Colon Smooth Muscle	Colon
44	chr12:49959800-49961000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr12:49959800-49961000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:49959800-49961200	Enhancers	Gastric	stomach
47	chr12:49960000-49960600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:49960000-49960600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:49960000-49960600	Weak transcription	Fetal Thymus	thymus
50	chr12:49960000-49960600	Weak transcription	Thymus	Thymus

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