Variant report

Variant	rs753924
Chromosome Location	chr12:106455696-106455697
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	POLR2A	chr12:106454061-106456771	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr12:106453441-106456804	A549	lung:	n/a	n/a
3	POLR2A	chr12:106454815-106456164	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr12:106454774-106456159	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000257890	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12315345	1.00[MEX][hapmap]
rs12316482	1.00[CEU][hapmap]
rs1427794	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs15040	1.00[MEX][hapmap]
rs17038111	1.00[CEU][hapmap]
rs58706987	0.95[AFR][1000 genomes]
rs60117100	0.91[AFR][1000 genomes]
rs73395291	0.90[AFR][1000 genomes]
rs73397105	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962923	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106415800-106456400	Weak transcription	Aorta	Aorta
2	chr12:106444000-106457800	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:106446600-106456400	Weak transcription	Right Atrium	heart
4	chr12:106446600-106459400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:106452200-106456400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:106452200-106459400	Weak transcription	Fetal Lung	lung
7	chr12:106452200-106460000	Weak transcription	Placenta	Placenta
8	chr12:106452200-106460600	Weak transcription	NHLF	lung
9	chr12:106452400-106457600	Weak transcription	Adipose Nuclei	Adipose
10	chr12:106452400-106457600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:106452400-106468600	Weak transcription	Psoas Muscle	Psoas
12	chr12:106452600-106456400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:106452600-106456800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:106452600-106459000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:106452600-106459400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:106452600-106459400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:106452800-106456400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:106452800-106456800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:106452800-106457600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:106452800-106457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:106452800-106457600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:106452800-106457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:106452800-106457600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:106452800-106457600	Weak transcription	Left Ventricle	heart
25	chr12:106452800-106459200	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:106452800-106459200	Weak transcription	NH-A	brain
27	chr12:106452800-106459200	Weak transcription	Osteobl	bone
28	chr12:106452800-106459400	Weak transcription	NHEK	skin
29	chr12:106452800-106460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:106452800-106460000	Weak transcription	Lung	lung
31	chr12:106452800-106463600	Weak transcription	NHDF-Ad	bronchial
32	chr12:106452800-106472200	Weak transcription	HMEC	breast
33	chr12:106452800-106474000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:106453000-106456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:106453000-106457600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:106453000-106458800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:106453000-106459200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:106453000-106460200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:106453200-106460200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:106453800-106456400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:106454000-106457800	Weak transcription	Brain Substantia Nigra	brain
42	chr12:106454000-106463400	Weak transcription	Fetal Brain Male	brain
43	chr12:106454600-106456600	Weak transcription	Spleen	Spleen
44	chr12:106455200-106457600	Weak transcription	A549	lung
45	chr12:106455200-106460000	Strong transcription	HSMM	muscle
46	chr12:106455400-106459400	Strong transcription	HSMMtube	muscle
47	chr12:106455600-106457600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:106455600-106458400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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