Variant report

Variant	rs7484721
Chromosome Location	chr12:25053813-25053814
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	REST	chr12:25053714-25056156	H1-neurons	neurons:	n/a	chr12:25055556-25055566 chr12:25055616-25055629 chr12:25056057-25056070
2	POLR2A	chr12:25053780-25054509	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:25053761-25054527	U87	brain:	n/a	n/a
4	NFIC	chr12:25053740-25054517	GM12878	blood:	n/a	n/a
5	FOXM1	chr12:25053808-25054416	GM12878	blood:	n/a	n/a
6	ATF2	chr12:25053791-25054381	GM12878	blood:	n/a	n/a
7	JUN	chr12:25053810-25054460	K562	blood:	n/a	chr12:25054340-25054352 chr12:25054149-25054159 chr12:25054150-25054158
8	PBX3	chr12:25053792-25054428	SK-N-SH	brain:	n/a	n/a
9	NFATC1	chr12:25053800-25054298	GM12878	blood:	n/a	n/a
10	FOSL2	chr12:25053784-25054391	SK-N-SH	brain:	n/a	chr12:25054340-25054352 chr12:25054149-25054159 chr12:25054150-25054158
11	CREB1	chr12:25053792-25054550	GM12878	blood:	n/a	n/a
12	NFATC1	chr12:25053796-25054369	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:25053792-25054449	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr12:25053755-25054527	U87	brain:	n/a	n/a
15	PML	chr12:25053730-25057048	GM12878	blood:	n/a	chr12:25054062-25054071

Variant related genes	Relation type
ENSG00000268865	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11047698	0.89[EUR][1000 genomes]
rs2133588	0.88[ASN][1000 genomes]
rs2133589	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2173606	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291894	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24971000-25054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:25015600-25055200	Weak transcription	Aorta	Aorta
3	chr12:25018400-25054600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:25020200-25054800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:25031000-25054000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:25031200-25063600	Weak transcription	HepG2	liver
7	chr12:25031400-25054000	Weak transcription	Fetal Brain Female	brain
8	chr12:25035000-25054600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:25039400-25054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:25043000-25054000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:25043400-25054800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:25044400-25054800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:25045800-25054800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:25046000-25054200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:25046400-25054800	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:25047400-25054200	Weak transcription	Dnd41	blood
17	chr12:25048200-25054000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:25048200-25054000	Weak transcription	HSMMtube	muscle
19	chr12:25048200-25054200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:25048200-25055000	Weak transcription	Esophagus	oesophagus
21	chr12:25048400-25054200	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:25049200-25054000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:25049600-25054000	Weak transcription	Fetal Brain Male	brain
24	chr12:25049600-25054800	Weak transcription	Pancreas	Pancrea
25	chr12:25050600-25054600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:25052000-25054000	Strong transcription	HSMM	muscle
27	chr12:25052000-25054000	Weak transcription	NHLF	lung
28	chr12:25052200-25054600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:25052200-25055600	Weak transcription	Ovary	ovary
30	chr12:25052600-25054000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:25052600-25054000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:25052800-25054200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:25053000-25054800	Enhancers	GM12878-XiMat	blood
34	chr12:25053200-25054000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:25053200-25054200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:25053200-25055000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:25053200-25057200	Flanking Active TSS	HUVEC	blood vessel
38	chr12:25053400-25054000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:25053400-25054000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:25053400-25054000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:25053400-25054000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr12:25053400-25054000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:25053400-25054000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:25053400-25054000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:25053400-25054200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:25053400-25054600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:25053400-25054800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:25053400-25055000	Enhancers	NHEK	skin
49	chr12:25053400-25055400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:25053600-25054000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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