Variant report

Variant	rs11183895
Chromosome Location	chr12:47740536-47740537
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	CEBPB	chr12:47740367-47740738	A549	lung:	n/a	chr12:47740538-47740549 chr12:47740536-47740549 chr12:47740538-47740547 chr12:47740536-47740547
2	CEBPD	chr12:47740372-47740676	HepG2	liver:	n/a	chr12:47740537-47740548
3	NFIC	chr12:47740343-47740881	HepG2	liver:	n/a	n/a
4	NFIC	chr12:47740350-47740765	HepG2	liver:	n/a	n/a
5	HNF4G	chr12:47740358-47740828	HepG2	liver:	n/a	chr12:47740618-47740633
6	FOXA1	chr12:47740319-47740891	HepG2	liver:	n/a	n/a
7	RCOR1	chr12:47740406-47740844	HepG2	liver:	n/a	n/a
8	MYBL2	chr12:47740327-47740811	HepG2	liver:	n/a	n/a
9	NR2F2	chr12:47740341-47740904	HepG2	liver:	n/a	n/a
10	ZEB1	chr12:47740305-47740849	HepG2	liver:	n/a	n/a
11	CEBPB	chr12:47740274-47740821	MCF-7	breast:	n/a	chr12:47740538-47740549 chr12:47740536-47740549 chr12:47740538-47740547 chr12:47740536-47740547
12	CEBPB	chr12:47740384-47740739	K562	blood:	n/a	chr12:47740538-47740549 chr12:47740536-47740549 chr12:47740538-47740547 chr12:47740536-47740547
13	RFX5	chr12:47740474-47740833	HepG2	liver:	n/a	n/a
14	CEBPB	chr12:47740271-47740809	A549	lung:	n/a	chr12:47740538-47740549 chr12:47740536-47740549 chr12:47740538-47740547 chr12:47740536-47740547
15	HNF4A	chr12:47740375-47740834	HepG2	liver:	n/a	chr12:47740617-47740632
16	HNF4A	chr12:47740398-47740779	HepG2	liver:	n/a	chr12:47740617-47740632
17	ARID3A	chr12:47740384-47740710	HepG2	liver:	n/a	n/a
18	NR3C1	chr12:47740440-47740794	A549	lung:	n/a	n/a
19	TEAD4	chr12:47740443-47740765	HepG2	liver:	n/a	n/a
20	CEBPB	chr12:47740450-47740783	MCF-7	breast:	n/a	chr12:47740538-47740549 chr12:47740536-47740549 chr12:47740538-47740547 chr12:47740536-47740547
21	MAFK	chr12:47740388-47740889	HepG2	liver:	n/a	chr12:47740669-47740684
22	CEBPB	chr12:47740333-47740823	HepG2	liver:	n/a	chr12:47740538-47740549 chr12:47740536-47740549 chr12:47740538-47740547 chr12:47740536-47740547
23	MBD4	chr12:47740336-47740834	HepG2	liver:	n/a	n/a
24	CEBPB	chr12:47740378-47740694	HepG2	liver:	n/a	chr12:47740538-47740549 chr12:47740536-47740549 chr12:47740538-47740547 chr12:47740536-47740547
25	MYBL2	chr12:47740308-47740911	HepG2	liver:	n/a	n/a
26	EP300	chr12:47740395-47740816	HepG2	liver:	n/a	chr12:47740551-47740561
27	FOXA2	chr12:47740409-47740808	HepG2	liver:	n/a	n/a
28	SP1	chr12:47740290-47740831	HepG2	liver:	n/a	n/a
29	MAFF	chr12:47740387-47740887	HepG2	liver:	n/a	chr12:47740667-47740685
30	RXRA	chr12:47740422-47740795	HepG2	liver:	n/a	n/a
31	CEBPB	chr12:47740292-47740743	HepG2	liver:	n/a	chr12:47740538-47740549 chr12:47740536-47740549 chr12:47740538-47740547 chr12:47740536-47740547
32	TEAD4	chr12:47740282-47741023	HepG2	liver:	n/a	n/a
33	HNF4G	chr12:47740312-47740775	HepG2	liver:	n/a	chr12:47740618-47740633
34	SMC3	chr12:47740438-47740741	HepG2	liver:	n/a	n/a
35	CEBPB	chr12:47740299-47740734	A549	lung:	n/a	chr12:47740538-47740549 chr12:47740536-47740549 chr12:47740538-47740547 chr12:47740536-47740547
36	JUND	chr12:47740528-47741156	HepG2	liver:	n/a	chr12:47741118-47741127
37	CEBPB	chr12:47740342-47740815	HepG2	liver:	n/a	chr12:47740538-47740549 chr12:47740536-47740549 chr12:47740538-47740547 chr12:47740536-47740547
38	FOXA2	chr12:47740302-47740837	A549	lung:	n/a	n/a
39	MAFK	chr12:47740402-47740875	HepG2	liver:	n/a	chr12:47740669-47740684
40	HDAC2	chr12:47740380-47740870	HepG2	liver:	n/a	chr12:47740551-47740560
41	MAFK	chr12:47740534-47740844	H1-hESC	embryonic stem cell:	n/a	chr12:47740669-47740684
42	FOXA1	chr12:47740394-47740837	HepG2	liver:	n/a	n/a
43	EP300	chr12:47740402-47740723	HepG2	liver:	n/a	chr12:47740551-47740561
44	HNF4A	chr12:47740365-47740812	HepG2	liver:	n/a	chr12:47740617-47740632
45	ZEB1	chr12:47740370-47740942	HepG2	liver:	n/a	n/a
46	FOXA2	chr12:47740433-47740783	A549	lung:	n/a	n/a
47	FOXA1	chr12:47740355-47740769	HepG2	liver:	n/a	n/a
48	EP300	chr12:47740331-47740868	HepG2	liver:	n/a	chr12:47740551-47740561
49	FOXA1	chr12:47740285-47740819	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMIGO2-7	chr12:47740370-47740663	expReg_chr12_3718_-

Variant related genes	Relation type
ENSG00000258116	TF binding region
ENSG00000199566	TF binding region

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10492010	0.90[ASN][1000 genomes]
rs10492012	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183848	0.85[ASN][1000 genomes]
rs11183850	0.80[ASN][1000 genomes]
rs11183851	0.95[ASN][1000 genomes]
rs11183853	0.95[ASN][1000 genomes]
rs11183854	0.95[ASN][1000 genomes]
rs11183855	0.95[ASN][1000 genomes]
rs11183856	0.95[ASN][1000 genomes]
rs11183857	0.95[ASN][1000 genomes]
rs11183858	0.95[ASN][1000 genomes]
rs11183859	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11183860	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11183862	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11183863	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11183866	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11183869	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11183870	0.86[AMR][1000 genomes]
rs11183871	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11183872	0.90[ASN][1000 genomes]
rs11183874	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183875	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183877	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183878	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183879	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183880	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183881	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183882	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183883	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183884	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183885	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183886	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183891	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183892	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183898	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183900	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183901	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183913	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183916	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183917	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183926	0.90[ASN][1000 genomes]
rs11183928	0.90[ASN][1000 genomes]
rs11183930	0.90[ASN][1000 genomes]
rs11183969	1.00[JPT][hapmap]
rs11561402	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12227067	0.90[ASN][1000 genomes]
rs12228428	0.85[ASN][1000 genomes]
rs12228708	0.90[ASN][1000 genomes]
rs12230585	0.85[ASN][1000 genomes]
rs12809861	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12809955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12810168	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12814166	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12814452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818155	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832278	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1833456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040645	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040646	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079026	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2079027	0.90[ASN][1000 genomes]
rs2079028	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs215340	0.86[CHB][hapmap]
rs34187987	0.95[ASN][1000 genomes]
rs34692456	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762197	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34878892	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35521464	0.90[ASN][1000 genomes]
rs35743720	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35839210	0.95[ASN][1000 genomes]
rs35889007	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs36059508	0.95[ASN][1000 genomes]
rs4473016	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768145	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4768146	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4768147	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4768153	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768796	0.86[AMR][1000 genomes]
rs4768797	0.86[AMR][1000 genomes]
rs4768798	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4768799	0.86[AMR][1000 genomes]
rs4768800	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4768805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71445736	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs71462954	0.85[ASN][1000 genomes]
rs71462956	0.90[ASN][1000 genomes]
rs71462957	0.90[ASN][1000 genomes]
rs71462959	0.90[ASN][1000 genomes]
rs71462960	0.90[ASN][1000 genomes]
rs71462961	0.90[ASN][1000 genomes]
rs855129	0.85[ASN][1000 genomes]
rs855131	0.85[ASN][1000 genomes]
rs855132	0.85[ASN][1000 genomes]
rs855133	0.85[ASN][1000 genomes]
rs855139	0.85[ASN][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	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47723200-47742200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:47737400-47748400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:47737600-47741600	Enhancers	Liver	Liver
4	chr12:47740000-47740600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr12:47740000-47741000	Enhancers	Stomach Mucosa	stomach
6	chr12:47740000-47741000	Enhancers	A549	lung
7	chr12:47740000-47741200	Enhancers	HepG2	liver
8	chr12:47740200-47740800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:47740200-47740800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:47740200-47740800	Enhancers	Osteobl	bone
11	chr12:47740200-47741000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:47740200-47742400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:47740400-47740800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:47740400-47740800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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