Variant report

Variant	rs7967566
Chromosome Location	chr12:59310723-59310724
allele	G/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	MAFF	chr12:59310586-59310934	HepG2	liver:	n/a	chr12:59310748-59310766 chr12:59310747-59310761
2	MYC	chr12:59310623-59312620	MCF10A-Er-Src	breast:	n/a	chr12:59311729-59311738 chr12:59311818-59311833 chr12:59311821-59311831 chr12:59311730-59311737 chr12:59311820-59311835
3	FOS	chr12:59310630-59311013	HUVEC	blood vessel:	n/a	chr12:59310821-59310832 chr12:59310822-59310831 chr12:59310822-59310832 chr12:59310822-59310832 chr12:59310646-59310655
4	FOS	chr12:59310565-59310954	MCF10A-Er-Src	breast:	n/a	chr12:59310821-59310832 chr12:59310822-59310831 chr12:59310822-59310832 chr12:59310822-59310832 chr12:59310646-59310655
5	POLR2A	chr12:59310459-59311406	SK-N-MC	brain:	n/a	n/a
6	CEBPB	chr12:59310558-59310863	HepG2	liver:	n/a	chr12:59310623-59310634 chr12:59310716-59310729
7	POLR2A	chr12:59310619-59311087	SK-N-MC	brain:	n/a	n/a
8	STAT3	chr12:59310699-59310905	MCF10A-Er-Src	breast:	n/a	chr12:59310822-59310831
9	FOS	chr12:59310596-59311280	MCF10A-Er-Src	breast:	n/a	chr12:59310821-59310832 chr12:59310822-59310831 chr12:59311087-59311096 chr12:59310822-59310832 chr12:59310822-59310832 chr12:59310646-59310655
10	POLR2A	chr12:59309378-59314838	MCF10A-Er-Src	breast:	n/a	n/a
11	MAFK	chr12:59310610-59310904	H1-hESC	embryonic stem cell:	n/a	chr12:59310747-59310761 chr12:59310749-59310764 chr12:59310744-59310764 chr12:59310746-59310762
12	STAT3	chr12:59310723-59310851	MCF10A-Er-Src	breast:	n/a	chr12:59310822-59310831
13	CEBPB	chr12:59310572-59310887	H1-hESC	embryonic stem cell:	n/a	chr12:59310623-59310634 chr12:59310716-59310729
14	KAP1	chr12:59310275-59312520	HEK293	kidney:	n/a	n/a
15	MAFK	chr12:59310588-59310898	HepG2	liver:	n/a	chr12:59310747-59310761 chr12:59310749-59310764 chr12:59310744-59310764 chr12:59310746-59310762
16	FOS	chr12:59310693-59310901	MCF10A-Er-Src	breast:	n/a	chr12:59310821-59310832 chr12:59310822-59310831 chr12:59310822-59310832 chr12:59310822-59310832
17	E2F4	chr12:59310476-59310824	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr12:59310665-59311336	MCF10A-Er-Src	breast:	n/a	chr12:59310821-59310832 chr12:59310822-59310831 chr12:59311087-59311096 chr12:59310822-59310832 chr12:59310822-59310832
19	MAFK	chr12:59310609-59310924	HepG2	liver:	n/a	chr12:59310747-59310761 chr12:59310749-59310764 chr12:59310744-59310764 chr12:59310746-59310762
20	MAFK	chr12:59310379-59311027	IMR90	lung:	n/a	chr12:59310747-59310761 chr12:59310749-59310764 chr12:59310744-59310764 chr12:59310746-59310762

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59306615..59312160-chr12:59312563..59315284,9	MCF-7	breast:
2	chr12:59300516..59303019-chr12:59309552..59311828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257443	TF binding region
LRIG3	TF binding region
ENSG00000139263	Chromatin interaction
ENSG00000257443	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10877187	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12426212	0.86[ASN][1000 genomes]
rs12426555	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers 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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59266000-59311000	Weak transcription	Fetal Thymus	thymus
2	chr12:59279000-59310800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:59290600-59311000	Weak transcription	Right Ventricle	heart
4	chr12:59302000-59313000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:59303200-59313400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:59303800-59311800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:59303800-59312400	Weak transcription	Gastric	stomach
8	chr12:59303800-59313000	Weak transcription	Lung	lung
9	chr12:59304800-59312800	Weak transcription	Placenta	Placenta
10	chr12:59306600-59313000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:59307400-59310800	Weak transcription	Hela-S3	cervix
12	chr12:59307600-59311200	Flanking Active TSS	HUVEC	blood vessel
13	chr12:59307800-59310800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:59308000-59310800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:59308000-59311000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:59308200-59311200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:59308400-59310800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:59308600-59311800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:59308600-59314600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:59308800-59310800	Active TSS	Fetal Brain Female	brain
21	chr12:59308800-59314600	Active TSS	Stomach Smooth Muscle	stomach
22	chr12:59309000-59311800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:59309000-59312000	Enhancers	Brain Substantia Nigra	brain
24	chr12:59309000-59312200	Flanking Active TSS	Osteobl	bone
25	chr12:59309000-59314400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr12:59309000-59314600	Active TSS	HMEC	breast
27	chr12:59309200-59311000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:59309200-59312200	Enhancers	Fetal Heart	heart
29	chr12:59309200-59314600	Active TSS	Duodenum Mucosa	Duodenum
30	chr12:59309200-59314600	Active TSS	Fetal Intestine Small	intestine
31	chr12:59309200-59314600	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr12:59309200-59314800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:59309200-59314800	Active TSS	Ovary	ovary
34	chr12:59309200-59315200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr12:59309400-59311800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:59309400-59315000	Active TSS	Fetal Muscle Trunk	muscle
37	chr12:59309600-59310800	Flanking Active TSS	NHEK	skin
38	chr12:59309600-59311800	Enhancers	A549	lung
39	chr12:59309800-59310800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:59309800-59310800	Enhancers	Brain Anterior Caudate	brain
41	chr12:59309800-59310800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:59309800-59310800	Weak transcription	Colonic Mucosa	Colon
43	chr12:59309800-59310800	Weak transcription	Left Ventricle	heart
44	chr12:59309800-59310800	Weak transcription	Pancreas	Pancrea
45	chr12:59309800-59310800	Enhancers	HepG2	liver
46	chr12:59309800-59310800	Enhancers	HSMM	muscle
47	chr12:59309800-59311000	Weak transcription	Brain Angular Gyrus	brain
48	chr12:59309800-59311000	Enhancers	Fetal Brain Male	brain
49	chr12:59309800-59311800	Enhancers	Brain Cingulate Gyrus	brain
50	chr12:59309800-59312000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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