Variant report

Variant	rs7966785
Chromosome Location	chr12:59314389-59314390
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	SP1	chr12:59313994-59314656	A549	lung:	n/a	chr12:59314366-59314387
2	RCOR1	chr12:59313843-59314704	HepG2	liver:	n/a	n/a
3	BACH1	chr12:59313457-59314573	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr12:59313059-59314590	Hela-S3	cervix:	n/a	chr12:59313589-59313604 chr12:59314410-59314419 chr12:59313591-59313600 chr12:59313592-59313599 chr12:59314408-59314421 chr12:59313590-59313601 chr12:59314409-59314420 chr12:59313590-59313601 chr12:59314410-59314419
5	FOS	chr12:59314297-59314580	MCF10A-Er-Src	breast:	n/a	chr12:59314350-59314359 chr12:59314566-59314575
6	POLR2A	chr12:59313774-59314486	A549	lung:	n/a	n/a
7	USF2	chr12:59314173-59314599	HepG2	liver:	n/a	chr12:59314427-59314443 chr12:59314382-59314398 chr12:59314408-59314419
8	NFIC	chr12:59313891-59314793	ECC-1	luminal epithelium:	n/a	n/a
9	MXI1	chr12:59312927-59314729	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:59313244-59314650	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr12:59313149-59314852	H1-hESC	embryonic stem cell:	n/a	chr12:59313711-59313720 chr12:59314368-59314382
12	USF1	chr12:59314126-59314661	A549	lung:	n/a	chr12:59314409-59314420 chr12:59314427-59314443 chr12:59314382-59314398
13	HDAC2	chr12:59313294-59314623	MCF-7	breast:	n/a	chr12:59314118-59314127 chr12:59314060-59314069
14	POLR2A	chr12:59313617-59314393	MCF-7	breast:	n/a	n/a
15	USF2	chr12:59314254-59314766	GM12878	blood:	n/a	chr12:59314427-59314443 chr12:59314382-59314398 chr12:59314408-59314419
16	POLR2A	chr12:59314080-59314507	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:59313766-59314512	HepG2	liver:	n/a	n/a
18	MAX	chr12:59313939-59314599	HUVEC	blood vessel:	n/a	chr12:59314410-59314419 chr12:59314408-59314421 chr12:59314409-59314420 chr12:59314410-59314419
19	TAF1	chr12:59313640-59314472	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF1	chr12:59314238-59314533	HepG2	liver:	n/a	chr12:59314409-59314420 chr12:59314427-59314443 chr12:59314382-59314398
21	POLR2A	chr12:59313612-59314625	MCF-7	breast:	n/a	n/a
22	TCF12	chr12:59313833-59314837	ECC-1	luminal epithelium:	n/a	chr12:59314210-59314217
23	USF1	chr12:59314140-59314694	SK-N-SH	brain:	n/a	chr12:59314409-59314420 chr12:59314427-59314443 chr12:59314382-59314398
24	ZKSCAN1	chr12:59313860-59314748	Hela-S3	cervix:	n/a	n/a
25	TCF7L2	chr12:59313351-59314648	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr12:59313091-59314597	HUVEC	blood vessel:	n/a	n/a
27	E2F4	chr12:59313684-59314976	MCF10A-Er-Src	breast:	n/a	chr12:59313711-59313720 chr12:59314368-59314382
28	SIN3AK20	chr12:59314311-59314552	PANC-1	pancreas:	n/a	n/a
29	MAX	chr12:59314053-59314536	GM12878	blood:	n/a	chr12:59314410-59314419 chr12:59314408-59314421 chr12:59314409-59314420 chr12:59314410-59314419
30	NFIC	chr12:59314089-59314461	HepG2	liver:	n/a	n/a
31	MAZ	chr12:59313373-59314775	IMR90	lung:	n/a	chr12:59313589-59313604 chr12:59314410-59314419 chr12:59313591-59313600 chr12:59313592-59313599 chr12:59314408-59314421 chr12:59313590-59313601 chr12:59314409-59314420 chr12:59313590-59313601 chr12:59314410-59314419
32	NFYB	chr12:59314226-59314547	GM12878	blood:	n/a	chr12:59314373-59314388 chr12:59314373-59314388 chr12:59314374-59314388 chr12:59314375-59314390
33	POLR2A	chr12:59312997-59314638	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr12:59314146-59314435	HepG2	liver:	n/a	n/a
35	MAX	chr12:59313912-59314647	SK-N-SH	brain:	n/a	chr12:59314410-59314419 chr12:59314408-59314421 chr12:59314409-59314420 chr12:59314410-59314419
36	USF1	chr12:59313976-59314861	HCT-116	colon:	n/a	chr12:59314409-59314420 chr12:59314427-59314443 chr12:59314382-59314398
37	YY1	chr12:59314054-59314500	GM12878	blood:	n/a	n/a
38	CTCF	chr12:59314240-59314390	GM12869	blood:	n/a	n/a
39	POLR2A	chr12:59313006-59314615	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr12:59313106-59314544	GM18505	blood:	n/a	n/a
41	RFX5	chr12:59314004-59314457	HepG2	liver:	n/a	n/a
42	FOS	chr12:59314271-59314435	MCF10A-Er-Src	breast:	n/a	chr12:59314350-59314359
43	MAX	chr12:59313222-59314799	HCT-116	colon:	n/a	chr12:59313589-59313604 chr12:59314410-59314419 chr12:59313591-59313600 chr12:59313592-59313599 chr12:59314408-59314421 chr12:59313590-59313601 chr12:59314409-59314420 chr12:59313590-59313601 chr12:59314410-59314419
44	USF1	chr12:59314043-59314685	A549	lung:	n/a	chr12:59314409-59314420 chr12:59314427-59314443 chr12:59314382-59314398
45	MXI1	chr12:59312803-59315453	IMR90	lung:	n/a	n/a
46	TAF1	chr12:59313904-59314530	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr12:59314240-59314390	HUVEC	blood vessel:	n/a	n/a
48	TBL1XR1	chr12:59314330-59314491	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:59314182-59314457	A549	lung:	n/a	n/a
50	E2F1	chr12:59313781-59314597	Hela-S3	cervix:	n/a	chr12:59314368-59314382

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59306615..59312160-chr12:59312563..59315284,9	MCF-7	breast:
2	chr12:59313255..59314867-chr6:27838598..27840298,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257443	TF binding region
LRIG3	TF binding region
ENSG00000139263	Chromatin interaction
ENSG00000182572	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11834651	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12426955	0.87[EUR][1000 genomes];0.81[ASN][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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59308600-59314600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:59308800-59314600	Active TSS	Stomach Smooth Muscle	stomach
3	chr12:59309000-59314400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:59309000-59314600	Active TSS	HMEC	breast
5	chr12:59309200-59314600	Active TSS	Duodenum Mucosa	Duodenum
6	chr12:59309200-59314600	Active TSS	Fetal Intestine Small	intestine
7	chr12:59309200-59314600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr12:59309200-59314800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:59309200-59314800	Active TSS	Ovary	ovary
10	chr12:59309200-59315200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr12:59309400-59315000	Active TSS	Fetal Muscle Trunk	muscle
12	chr12:59309800-59314600	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr12:59310000-59315000	Active TSS	Fetal Intestine Large	intestine
14	chr12:59310000-59315200	Active TSS	Rectal Smooth Muscle	rectum
15	chr12:59310400-59314400	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr12:59310400-59314800	Active TSS	Psoas Muscle	Psoas
17	chr12:59310400-59315200	Active TSS	Stomach Mucosa	stomach
18	chr12:59310600-59314600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:59310600-59314600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:59310600-59314600	Active TSS	Fetal Stomach	stomach
21	chr12:59310600-59314600	Active TSS	NHLF	lung
22	chr12:59310600-59314800	Active TSS	Right Atrium	heart
23	chr12:59310600-59315000	Active TSS	Fetal Kidney	kidney
24	chr12:59310800-59314600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:59310800-59314600	Active TSS	NHEK	skin
26	chr12:59310800-59314800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:59310800-59314800	Active TSS	Aorta	Aorta
28	chr12:59310800-59315000	Active TSS	Pancreas	Pancrea
29	chr12:59311000-59314400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:59311000-59314600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:59311000-59314600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:59311000-59314600	Active TSS	HSMMtube	muscle
33	chr12:59311000-59314800	Active TSS	Colon Smooth Muscle	Colon
34	chr12:59311000-59314800	Active TSS	Right Ventricle	heart
35	chr12:59311000-59315000	Active TSS	Colonic Mucosa	Colon
36	chr12:59311200-59314400	Active TSS	Fetal Lung	lung
37	chr12:59311200-59314400	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:59311200-59314400	Active TSS	Small Intestine	intestine
39	chr12:59311200-59314400	Active TSS	NH-A	brain
40	chr12:59311200-59314600	Active TSS	Brain Hippocampus Middle	brain
41	chr12:59311200-59314600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr12:59311200-59314600	Active TSS	GM12878-XiMat	blood
43	chr12:59311200-59314600	Active TSS	HUVEC	blood vessel
44	chr12:59311200-59314800	Active TSS	HSMM	muscle
45	chr12:59311400-59314400	Active TSS	Muscle Satellite Cultured Cells	--
46	chr12:59311400-59314400	Active TSS	Liver	Liver
47	chr12:59311400-59314600	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr12:59311600-59314600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:59311800-59314800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:59311800-59314800	Bivalent/Poised TSS	Fetal Thymus	thymus

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