Variant report

Variant	rs73213453
Chromosome Location	chr12:119624976-119624977
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	CEBPB	chr12:119624968-119625186	MCF-7	breast:	n/a	chr12:119625091-119625102
2	CEBPB	chr12:119624906-119625263	IMR90	lung:	n/a	chr12:119625091-119625102
3	CEBPB	chr12:119624930-119625174	A549	lung:	n/a	chr12:119625091-119625102
4	CEBPB	chr12:119624923-119625250	K562	blood:	n/a	chr12:119625091-119625102
5	CEBPB	chr12:119624937-119625258	HepG2	liver:	n/a	chr12:119625091-119625102

No.	Distal block	Cell Line	Cell type
1	chr12:119616288..119618204-chr12:119624726..119626315,2	MCF-7	breast:
2	chr12:119616453..119622468-chr12:119623323..119627109,7	MCF-7	breast:
3	chr12:119618981..119622944-chr12:119623767..119626992,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256609	TF binding region
ENSG00000256609	Chromatin interaction
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2278182	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119617400-119629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:119618400-119626400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:119618800-119625800	Weak transcription	Gastric	stomach
4	chr12:119618800-119631000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:119619000-119626400	Weak transcription	Osteobl	bone
7	chr12:119619200-119631600	Weak transcription	Pancreas	Pancrea
8	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
9	chr12:119619600-119625600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:119620000-119626400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:119620000-119634000	Weak transcription	HUVEC	blood vessel
12	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:119621000-119625800	Weak transcription	Hela-S3	cervix
16	chr12:119621000-119626400	Weak transcription	HSMM	muscle
17	chr12:119621200-119626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:119621200-119632200	Weak transcription	Fetal Thymus	thymus
19	chr12:119621800-119629200	Genic enhancers	Placenta	Placenta
20	chr12:119622400-119626400	Weak transcription	NH-A	brain
21	chr12:119622400-119626800	Weak transcription	NHDF-Ad	bronchial
22	chr12:119622400-119628800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:119622400-119629000	Weak transcription	Esophagus	oesophagus
24	chr12:119622600-119629000	Weak transcription	Psoas Muscle	Psoas
25	chr12:119622800-119626400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:119623800-119629200	Genic enhancers	Fetal Muscle Leg	muscle
27	chr12:119624000-119625800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:119624000-119625800	Genic enhancers	Spleen	Spleen
29	chr12:119624200-119625000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:119624200-119625400	Strong transcription	Aorta	Aorta
31	chr12:119624200-119625400	Weak transcription	Brain Anterior Caudate	brain
32	chr12:119624200-119626200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:119624200-119626600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:119624200-119627600	Genic enhancers	Lung	lung
35	chr12:119624200-119629400	Genic enhancers	Left Ventricle	heart
36	chr12:119624400-119625000	Genic enhancers	Adipose Nuclei	Adipose
37	chr12:119624400-119625600	Weak transcription	Ovary	ovary
38	chr12:119624400-119625600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr12:119624400-119626200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:119624400-119626200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:119624400-119626400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:119624400-119626400	Weak transcription	Fetal Lung	lung
43	chr12:119624400-119626400	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr12:119624400-119626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:119624400-119626800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:119624400-119629200	Genic enhancers	Rectal Smooth Muscle	rectum
47	chr12:119624400-119629400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:119624600-119625000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:119624600-119625000	Genic enhancers	Brain Inferior Temporal Lobe	brain
50	chr12:119624600-119625000	Genic enhancers	Brain Substantia Nigra	brain

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