Variant report

Variant	rs533759356
Chromosome Location	chr12:25055160-25055161
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr12:25055124-25057096	GM12878	blood:	n/a	n/a
2	CHD1	chr12:25054799-25055366	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:25053901-25055292	IMR90	lung:	n/a	n/a
4	BACH1	chr12:25054853-25055764	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr12:25054870-25056625	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr12:25054726-25056546	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:25054758-25055506	H1-neurons	neurons:	n/a	n/a
8	REST	chr12:25053714-25056156	H1-neurons	neurons:	n/a	chr12:25055556-25055566 chr12:25055616-25055629 chr12:25056057-25056070
9	POLR2A	chr12:25053871-25057036	HUVEC	blood vessel:	n/a	n/a
10	SP4	chr12:25055111-25055508	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:25054579-25057018	HUVEC	blood vessel:	n/a	n/a
12	CHD2	chr12:25055045-25055390	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr12:25055012-25055374	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:25054640-25056880	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr12:25054705-25055815	H1-neurons	neurons:	n/a	n/a
16	MAX	chr12:25054812-25055422	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:25054877-25056537	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3A	chr12:25054784-25056574	H1-hESC	embryonic stem cell:	n/a	n/a
19	PBX3	chr12:25055129-25055279	GM12878	blood:	n/a	n/a
20	CTCF	chr12:25055120-25055270	HAc	cerebellar:	n/a	n/a
21	MXI1	chr12:25054838-25055393	H1-hESC	embryonic stem cell:	n/a	n/a
22	RUNX3	chr12:25055157-25056088	GM12878	blood:	n/a	n/a
23	TEAD4	chr12:25054860-25055300	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr12:25054799-25055364	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:25055117-25056633	GM12878	blood:	n/a	n/a
26	TAF1	chr12:25055097-25055363	H1-neurons	neurons:	n/a	n/a
27	MAX	chr12:25055078-25055391	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr12:25055129-25055431	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:25054906-25055265	HUVEC	blood vessel:	n/a	n/a
30	E2F6	chr12:25054878-25056273	H1-hESC	embryonic stem cell:	n/a	chr12:25056219-25056226
31	POLR2A	chr12:25055031-25056500	U87	brain:	n/a	n/a
32	POLR2A	chr12:25054485-25055421	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr12:25054780-25055444	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr12:25055031-25056449	U87	brain:	n/a	n/a
35	TBP	chr12:25054953-25055419	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr12:25053857-25056880	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr12:25055160-25055310	HCPEpiC	choroid plexus:	n/a	n/a
38	NFIC	chr12:25055105-25056082	GM12878	blood:	n/a	n/a
39	PML	chr12:25053730-25057048	GM12878	blood:	n/a	chr12:25054062-25054071
40	POLR2A	chr12:25054768-25056361	H1-neurons	neurons:	n/a	n/a
41	REST	chr12:25054856-25055515	H1-neurons	neurons:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000268865	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 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	nsv1053309	chr12:24770995-25078227	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	11 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv1045302	chr12:24921100-25078227	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS 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	7 gene(s)	inside rSNPs	diseases
17	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
18	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
19	nsv1054863	chr12:24941350-25078227	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
20	nsv541426	chr12:24941350-25078227	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
21	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
22	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
23	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
24	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
25	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
26	nsv520878	chr12:25054891-25056065	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25015600-25055200	Weak transcription	Aorta	Aorta
2	chr12:25031200-25063600	Weak transcription	HepG2	liver
3	chr12:25052200-25055600	Weak transcription	Ovary	ovary
4	chr12:25053200-25057200	Flanking Active TSS	HUVEC	blood vessel
5	chr12:25053400-25055400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:25053600-25055200	Enhancers	HMEC	breast
7	chr12:25053600-25055400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:25053600-25057000	Active TSS	Brain Anterior Caudate	brain
9	chr12:25053800-25055200	Enhancers	NHDF-Ad	bronchial
10	chr12:25054000-25055200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:25054000-25055200	Weak transcription	Placenta	Placenta
12	chr12:25054000-25056000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:25054000-25056400	Active TSS	Brain Angular Gyrus	brain
14	chr12:25054000-25056600	Active TSS	Fetal Brain Female	brain
15	chr12:25054000-25056800	Bivalent/Poised TSS	Fetal Kidney	kidney
16	chr12:25054000-25057200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:25054200-25055200	Enhancers	Dnd41	blood
18	chr12:25054200-25055800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:25054200-25055800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr12:25054200-25056400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr12:25054200-25056600	Active TSS	Brain Hippocampus Middle	brain
22	chr12:25054200-25057000	Active TSS	Brain Substantia Nigra	brain
23	chr12:25054400-25055400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:25054400-25055400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr12:25054600-25055200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:25054600-25055200	Flanking Active TSS	HSMM	muscle
27	chr12:25054600-25055200	Flanking Active TSS	HSMMtube	muscle
28	chr12:25054600-25055600	Active TSS	Psoas Muscle	Psoas
29	chr12:25054600-25055600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
30	chr12:25054600-25055800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:25054600-25055800	Flanking Active TSS	NH-A	brain
32	chr12:25054600-25056400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:25054600-25056800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr12:25054600-25056800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr12:25054600-25057200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:25054800-25055200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:25054800-25055200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:25054800-25055200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:25054800-25055200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:25054800-25055200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr12:25054800-25055200	Bivalent Enhancer	Fetal Thymus	thymus
42	chr12:25054800-25055200	Enhancers	Lung	lung
43	chr12:25054800-25055400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:25054800-25055400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr12:25054800-25055400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr12:25054800-25055400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr12:25054800-25055400	Flanking Active TSS	Osteobl	bone
48	chr12:25054800-25055600	Bivalent/Poised TSS	Left Ventricle	heart
49	chr12:25054800-25055600	Enhancers	Pancreas	Pancrea
50	chr12:25054800-25055600	Weak transcription	K562	blood

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