Variant report

Variant	rs73293790
Chromosome Location	chr12:25101689-25101690
allele	C/G
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	chr12:25099831-25105595	GM12892	blood:	n/a	n/a
2	POLR2A	chr12:25101649-25102433	K562	blood:	n/a	n/a
3	POLR2A	chr12:25099474-25105917	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:25101229-25102528	HL-60	blood:	n/a	n/a
5	MXI1	chr12:25101396-25102462	H1-hESC	embryonic stem cell:	n/a	chr12:25102392-25102407
6	FOXM1	chr12:25100597-25102467	GM12878	blood:	n/a	n/a
7	MYC	chr12:25099506-25102659	K562	blood:	n/a	chr12:25102076-25102085
8	RELA	chr12:25100770-25102011	GM10847	blood:	n/a	n/a
9	POLR2A	chr12:25101200-25102596	PFSK-1	brain:	n/a	n/a
10	MAZ	chr12:25101256-25102822	K562	blood:	n/a	chr12:25102076-25102085
11	STAT5A	chr12:25100663-25102513	GM12878	blood:	n/a	n/a
12	MYC	chr12:25099632-25102671	K562	blood:	n/a	chr12:25102076-25102085
13	CTCF	chr12:25101540-25101690	GM06990	blood:	n/a	n/a
14	MAX	chr12:25101247-25102706	SK-N-SH	brain:	n/a	chr12:25102076-25102085
15	SP1	chr12:25101312-25102504	A549	lung:	n/a	chr12:25101395-25101409
16	POLR2A	chr12:25100739-25102574	H1-hESC	embryonic stem cell:	n/a	n/a
17	GTF2F1	chr12:25100795-25102339	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:25101270-25102502	GM15510	blood:	n/a	n/a
19	SP4	chr12:25101559-25102068	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF7	chr12:25100768-25102398	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF1	chr12:25101306-25101743	GM12892	blood:	n/a	n/a
22	E2F6	chr12:25101492-25102385	A549	lung:	n/a	n/a
23	PML	chr12:25101654-25102289	K562	blood:	n/a	n/a
24	TCF3	chr12:25101405-25101702	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:25101442-25102343	U87	brain:	n/a	n/a
26	CEBPB	chr12:25101573-25102376	H1-hESC	embryonic stem cell:	n/a	chr12:25102073-25102084
27	IKZF1	chr12:25100489-25101990	GM12878	blood:	n/a	n/a
28	MTA3	chr12:25100193-25106014	GM12878	blood:	n/a	n/a
29	EP300	chr12:25100691-25101918	GM12878	blood:	n/a	chr12:25101616-25101630 chr12:25101529-25101543
30	CTBP2	chr12:25101387-25102425	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:25101407-25102216	ProgFib	skin:	n/a	n/a
32	RCOR1	chr12:25101447-25104056	K562	blood:	n/a	n/a
33	POLR2A	chr12:25100481-25105858	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:25101313-25102340	SK-N-SH	brain:	n/a	n/a
35	RUNX3	chr12:25100410-25102627	GM12878	blood:	n/a	n/a
36	EP300	chr12:25100623-25102418	GM12878	blood:	n/a	chr12:25101616-25101630 chr12:25101951-25101967 chr12:25102101-25102117 chr12:25101529-25101543 chr12:25102114-25102130
37	MAX	chr12:25101284-25102606	K562	blood:	n/a	chr12:25102076-25102085
38	SIN3AK20	chr12:25101244-25102254	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr12:25101620-25101770	HCPEpiC	choroid plexus:	n/a	n/a
40	EP300	chr12:25100828-25102544	K562	blood:	n/a	chr12:25101616-25101630 chr12:25101951-25101967 chr12:25102101-25102117 chr12:25101529-25101543 chr12:25102114-25102130
41	ZBTB7A	chr12:25101625-25102233	K562	blood:	n/a	n/a
42	TRIM28	chr12:25101610-25102391	K562	blood:	n/a	n/a
43	POLR2A	chr12:25101315-25102384	SK-N-MC	brain:	n/a	n/a
44	IRF4	chr12:25101329-25101919	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:25101342-25102338	K562	blood:	n/a	n/a
46	POLR2A	chr12:25100520-25102595	SK-N-MC	brain:	n/a	n/a
47	FOXM1	chr12:25100691-25102356	GM12878	blood:	n/a	n/a
48	ZNF384	chr12:25101640-25102349	K562	blood:	n/a	n/a
49	POLR2A	chr12:25086081-25102562	K562	blood:	n/a	n/a
50	ATF2	chr12:25101367-25102428	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:25075501..25077700-chr12:25100271..25101927,2	K562	blood:
2	chr12:12869073..12871163-chr12:25099241..25101986,2	K562	blood:
3	chr12:25100091..25101732-chr12:25123501..25126492,2	K562	blood:
4	chr12:25098868..25101695-chr12:25348217..25350408,2	K562	blood:
5	chr12:25005509..25007227-chr12:25098773..25101802,3	K562	blood:

Variant related genes	Relation type
ENSG00000255921	TF binding region
ENSG00000205707	Chromatin interaction
ENSG00000111276	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11047726	0.92[ASN][1000 genomes]
rs61330006	0.85[AMR][1000 genomes]
rs7298907	0.85[AMR][1000 genomes]
rs73293742	0.85[AMR][1000 genomes]
rs73293743	0.85[AMR][1000 genomes]
rs73293773	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293787	1.00[AFR][1000 genomes]
rs7953453	0.85[AMR][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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25098400-25102600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:25098800-25101800	Active TSS	GM12878-XiMat	blood
3	chr12:25099000-25102200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:25099000-25102200	Active TSS	K562	blood
5	chr12:25099200-25102200	Active TSS	Ovary	ovary
6	chr12:25099200-25102400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:25099400-25102200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:25099400-25102400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:25099400-25102600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:25099400-25102800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:25099400-25102800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:25099600-25101800	Active TSS	Fetal Muscle Trunk	muscle
13	chr12:25099600-25102000	Active TSS	Fetal Muscle Leg	muscle
14	chr12:25099600-25102200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:25099600-25102400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:25099600-25102400	Active TSS	HSMMtube	muscle
17	chr12:25099600-25102600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr12:25099600-25102600	Active TSS	Pancreas	Pancrea
19	chr12:25099800-25102200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:25099800-25102200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:25099800-25102400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:25099800-25102400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:25099800-25102400	Active TSS	Placenta Amnion	Placenta Amnion
24	chr12:25099800-25102400	Active TSS	NHLF	lung
25	chr12:25099800-25102600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:25099800-25102800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr12:25100000-25101800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:25100000-25102400	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr12:25100000-25102400	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr12:25100000-25102600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:25100000-25102600	Active TSS	HSMM	muscle
32	chr12:25100200-25101800	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr12:25100200-25102200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:25100200-25102200	Active TSS	A549	lung
35	chr12:25100200-25102400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr12:25100200-25102400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
37	chr12:25100400-25102000	Active TSS	Fetal Stomach	stomach
38	chr12:25100400-25102000	Active TSS	Fetal Thymus	thymus
39	chr12:25100400-25102200	Active TSS	NH-A	brain
40	chr12:25100600-25102000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr12:25100600-25102200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:25100600-25102200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:25100600-25102200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:25100600-25102200	Active TSS	Fetal Lung	lung
45	chr12:25100600-25102200	Active TSS	Osteobl	bone
46	chr12:25100600-25102400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr12:25100600-25102400	Active TSS	Colon Smooth Muscle	Colon
48	chr12:25100600-25102400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
49	chr12:25100600-25102400	Active TSS	Thymus	Thymus
50	chr12:25100600-25102400	Active TSS	NHDF-Ad	bronchial

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