Variant report

Variant	rs58067800
Chromosome Location	chr12:48164219-48164220
allele	A/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	CEBPB	chr12:48163847-48164220	HepG2	liver:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
2	CEBPB	chr12:48163635-48164340	MCF-7	breast:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
3	CEBPB	chr12:48163659-48164307	K562	blood:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
4	CEBPB	chr12:48163240-48164309	K562	blood:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
5	CEBPD	chr12:48163814-48164255	K562	blood:	n/a	chr12:48164019-48164028 chr12:48164017-48164028
6	CEBPB	chr12:48163655-48164383	HCT-116	colon:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
7	ZNF143	chr12:48163909-48164222	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr12:48163820-48164344	IMR90	lung:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
9	CEBPB	chr12:48163831-48164373	A549	lung:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
10	CEBPB	chr12:48163710-48164324	HCT-116	colon:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
11	CEBPB	chr12:48163676-48164393	A549	lung:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
12	RFX5	chr12:48163848-48164253	Hela-S3	cervix:	n/a	n/a
13	EP300	chr12:48163832-48164241	Hela-S3	cervix:	n/a	chr12:48164005-48164019
14	CEBPB	chr12:48163738-48164343	ECC-1	luminal epithelium:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
15	CEBPB	chr12:48163034-48164410	Hela-S3	cervix:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
16	CEBPB	chr12:48163826-48164258	HepG2	liver:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
17	CEBPB	chr12:48163796-48164333	MCF-7	breast:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
18	MYC	chr12:48163772-48164345	NB4	blood:	n/a	n/a
19	MAFK	chr12:48163885-48164245	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr12:48163766-48164291	A549	lung:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
21	CEBPB	chr12:48163643-48164433	ECC-1	luminal epithelium:	n/a	chr12:48164017-48164030 chr12:48164017-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164019-48164028 chr12:48164017-48164030 chr12:48164019-48164028
22	STAT3	chr12:48163850-48164219	Hela-S3	cervix:	n/a	chr12:48164032-48164043

No.	Distal block	Cell Line	Cell type
1	chr12:48131407..48141823-chr12:48163910..48172152,16	MCF-7	breast:
2	chr12:48109324..48111684-chr12:48163704..48166114,2	K562	blood:
3	chr12:48144826..48150380-chr12:48164026..48173211,11	K562	blood:
4	chr12:48152002..48153917-chr12:48162082..48164743,2	MCF-7	breast:
5	chr12:48162613..48164566-chr12:48191826..48194298,2	MCF-7	breast:
6	chr12:48146703..48149591-chr12:48162499..48164799,2	MCF-7	breast:
7	chr12:48151780..48155631-chr12:48159603..48164338,5	MCF-7	breast:
8	chr12:48147317..48148897-chr12:48163637..48165768,2	MCF-7	breast:

Variant related genes	Relation type
SLC48A1	TF binding region
ENSG00000257433	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000079337	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1006476	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1006477	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59205218	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60776348	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7135791	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7136720	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7306788	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7307367	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73291230	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7488942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964310	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
4	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong 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	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48153600-48166000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:48153600-48166200	Weak transcription	Brain Anterior Caudate	brain
3	chr12:48153600-48166400	Weak transcription	Fetal Brain Female	brain
4	chr12:48153600-48166800	Weak transcription	Gastric	stomach
5	chr12:48153800-48165600	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:48153800-48165800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:48153800-48166200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:48154400-48165800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:48157800-48165800	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:48157800-48166200	Weak transcription	Lung	lung
11	chr12:48157800-48166200	Weak transcription	Right Atrium	heart
12	chr12:48158200-48164800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:48158200-48166600	Weak transcription	Fetal Kidney	kidney
14	chr12:48158400-48164400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:48158600-48164800	Enhancers	NHEK	skin
16	chr12:48159400-48166600	Weak transcription	Colonic Mucosa	Colon
17	chr12:48159800-48166400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:48159800-48166600	Weak transcription	Right Ventricle	heart
19	chr12:48160400-48166200	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:48160800-48164400	Enhancers	Placenta	Placenta
21	chr12:48160800-48166000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:48161000-48166000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:48161000-48166200	Weak transcription	Left Ventricle	heart
24	chr12:48161200-48164400	Enhancers	Hela-S3	cervix
25	chr12:48161200-48164400	Enhancers	HepG2	liver
26	chr12:48161200-48164400	Enhancers	HMEC	breast
27	chr12:48161200-48164600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:48161400-48164800	Enhancers	K562	blood
29	chr12:48161400-48166200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:48161400-48166400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:48161400-48166400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:48161400-48166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:48161600-48166200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:48161600-48166200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:48161800-48164400	Enhancers	Liver	Liver
36	chr12:48162200-48164400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:48162400-48166000	Weak transcription	Fetal Thymus	thymus
38	chr12:48162400-48166400	Weak transcription	NHDF-Ad	bronchial
39	chr12:48162600-48166000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:48162600-48166000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:48162800-48164400	Enhancers	A549	lung
42	chr12:48162800-48164800	Enhancers	Esophagus	oesophagus
43	chr12:48162800-48166000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:48162800-48166400	Weak transcription	HUVEC	blood vessel
45	chr12:48163000-48166000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:48163000-48166400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:48163000-48166400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:48163200-48164400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:48163200-48165800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:48163200-48166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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