Variant report

Variant	rs11047726
Chromosome Location	chr12:25104698-25104699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:25099831-25105595	GM12892	blood:	n/a	n/a
2	TCF3	chr12:25104572-25105155	GM12878	blood:	n/a	n/a
3	RUNX3	chr12:25102748-25105659	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:25099474-25105917	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:25104626-25105140	GM12891	blood:	n/a	n/a
6	IRF3	chr12:25104673-25104930	GM12878	blood:	n/a	n/a
7	EP300	chr12:25104646-25105048	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr12:25104647-25105176	K562	blood:	n/a	n/a
9	POLR2A	chr12:25104657-25105187	GM12891	blood:	n/a	n/a
10	PBX3	chr12:25104673-25105091	GM12878	blood:	n/a	n/a
11	ZNF384	chr12:25103828-25105684	K562	blood:	n/a	n/a
12	ELF1	chr12:25104695-25105182	K562	blood:	n/a	n/a
13	EBF1	chr12:25104562-25105254	GM12878	blood:	n/a	n/a
14	MTA3	chr12:25100193-25106014	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:25102982-25105203	GM12892	blood:	n/a	n/a
16	FOXM1	chr12:25104462-25105390	GM12878	blood:	n/a	n/a
17	FOXM1	chr12:25104432-25105609	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:25100481-25105858	GM12878	blood:	n/a	n/a
19	NFIC	chr12:25102781-25105970	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:25103199-25105336	GM12878	blood:	n/a	n/a
21	EGR1	chr12:25104666-25105064	GM12878	blood:	n/a	n/a
22	MYC	chr12:25104562-25105192	K562	blood:	n/a	n/a
23	CCNT2	chr12:25104678-25105169	K562	blood:	n/a	n/a
24	SPI1	chr12:25104521-25105686	GM12878	blood:	n/a	chr12:25105260-25105269
25	SP1	chr12:25104550-25105217	GM12878	blood:	n/a	n/a
26	EGR1	chr12:25104666-25105135	K562	blood:	n/a	n/a
27	BCL3	chr12:25104549-25105240	GM12878	blood:	n/a	n/a
28	YY1	chr12:25104584-25105193	GM12892	blood:	n/a	n/a
29	SREBP1	chr12:25104260-25106173	GM12878	blood:	n/a	n/a
30	PML	chr12:25102911-25105884	GM12878	blood:	n/a	n/a
31	NFIC	chr12:25104597-25105476	GM12878	blood:	n/a	n/a
32	IRF1	chr12:25104641-25105188	K562	blood:	n/a	n/a
33	RUNX3	chr12:25104599-25105465	GM12878	blood:	n/a	n/a
34	PAX5	chr12:25104649-25105194	GM12878	blood:	n/a	n/a
35	CEBPB	chr12:25104479-25105439	GM12878	blood:	n/a	n/a
36	JUND	chr12:25104625-25105123	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr12:25104667-25105211	GM12878	blood:	n/a	chr12:25104676-25104686
38	POLR2A	chr12:25100657-25105244	GM12892	blood:	n/a	n/a
39	POU2F2	chr12:25104583-25105099	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:25104551-25105300	H1-hESC	embryonic stem cell:	n/a	n/a
41	CUX1	chr12:25104629-25105216	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:25104601-25105137	GM12878	blood:	n/a	n/a
43	EGR1	chr12:25104642-25105070	GM12878	blood:	n/a	n/a
44	CHD1	chr12:25104644-25105074	H1-hESC	embryonic stem cell:	n/a	chr12:25104676-25104686
45	MXI1	chr12:25104625-25105204	GM12878	blood:	n/a	n/a
46	EP300	chr12:25104688-25105459	GM12878	blood:	n/a	chr12:25105255-25105269
47	ATF2	chr12:25104489-25105881	GM12878	blood:	n/a	n/a
48	TAF1	chr12:25104577-25105179	H1-hESC	embryonic stem cell:	n/a	n/a
49	EP300	chr12:25104544-25105168	H1-hESC	embryonic stem cell:	n/a	n/a
50	TEAD4	chr12:25104646-25105231	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:25102694..25105038-chr12:25299270..25301351,2	MCF-7	breast:
2	chr12:25069181..25071774-chr12:25102558..25104907,2	K562	blood:
3	chr12:25103176..25105758-chr12:25114864..25117821,2	K562	blood:

No data

Variant related genes	Relation type
BCAT1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10219436	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10219456	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12311514	0.81[CEU][hapmap]
rs1497262	0.94[CEU][hapmap];0.88[TSI][hapmap]
rs34960650	0.92[EUR][1000 genomes]
rs35499976	0.86[EUR][1000 genomes]
rs73293790	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
8	nsv1041221	chr12:24880443-25213168	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv541425	chr12:24880443-25213168	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv469170	chr12:24891175-25204353	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv557776	chr12:24891175-25204353	Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv557777	chr12:24891175-25205241	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv469173	chr12:24891175-25207653	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv557778	chr12:24891175-25207653	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1049138	chr12:24921100-25164524	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1051319	chr12:24921100-25238936	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
17	nsv1051968	chr12:24941350-25138118	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv541427	chr12:24941350-25138118	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
19	nsv1037288	chr12:24941350-25238936	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
20	nsv541428	chr12:24941350-25238936	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
21	nsv1041218	chr12:24972019-25304356	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv832353	chr12:25060820-25119975	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
23	esv3378403	chr12:25084023-25181017	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11047726	IFLTD1	cis	parietal	SCAN
rs11047726	REP15	cis	parietal	SCAN
rs11047726	CASC1	cis	parietal	SCAN
rs11047726	LRMP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25101800-25106200	Flanking Active TSS	GM12878-XiMat	blood
2	chr12:25102400-25105400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:25102400-25105600	Enhancers	Placenta	Placenta
4	chr12:25102600-25104800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:25102600-25104800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:25102600-25105200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:25102800-25104800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:25102800-25105800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:25103200-25104800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:25103400-25104800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:25103600-25104800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:25103800-25104800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:25103800-25104800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:25103800-25104800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:25103800-25104800	Weak transcription	Fetal Heart	heart
16	chr12:25104000-25105200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr12:25104400-25104800	Enhancers	HepG2	liver
18	chr12:25104400-25105800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:25104600-25104800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:25104600-25105000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr12:25104600-25105000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:25104600-25105000	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:25104600-25105000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:25104600-25105000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:25104600-25105200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr12:25104600-25105400	Flanking Active TSS	K562	blood
27	chr12:25104600-25105600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:25104600-25105800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:25104600-25105800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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