Variant report

Variant	rs59769365
Chromosome Location	chr12:51236416-51236417
allele	C/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	E2F6	chr12:51236408-51236994	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr12:51236361-51237037	H1-hESC	embryonic stem cell:	n/a	chr12:51236719-51236731 chr12:51236720-51236742 chr12:51236721-51236729 chr12:51236720-51236730 chr12:51236723-51236731
3	MAX	chr12:51236352-51237027	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr12:51236351-51237087	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr12:51236271-51237132	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr12:51236369-51236899	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RN7SL519P	TF binding region
TMPRSS12	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10876100	0.81[AFR][1000 genomes]
rs57802483	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs60542546	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73311266	0.96[AFR][1000 genomes];0.93[AMR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv899078	chr12:51213433-51286750	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51228400-51236600	Weak transcription	Gastric	stomach
2	chr12:51233400-51236600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:51235000-51236800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:51235200-51236600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:51235200-51236600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:51236000-51236600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:51236200-51237200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:51236200-51237400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:51236200-51237400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr12:51236400-51236600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:51236400-51236600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:51236400-51236600	Enhancers	Aorta	Aorta
13	chr12:51236400-51236600	Active TSS	Esophagus	oesophagus
14	chr12:51236400-51236600	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr12:51236400-51236600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr12:51236400-51236600	Enhancers	Lung	lung
17	chr12:51236400-51236600	Enhancers	Right Atrium	heart
18	chr12:51236400-51236800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:51236400-51236800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr12:51236400-51236800	Enhancers	Psoas Muscle	Psoas
21	chr12:51236400-51236800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr12:51236400-51237000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:51236400-51237000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:51236400-51237000	Active TSS	Fetal Heart	heart
25	chr12:51236400-51237000	Flanking Active TSS	Pancreas	Pancrea
26	chr12:51236400-51237000	Flanking Active TSS	NHEK	skin
27	chr12:51236400-51237200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:51236400-51237200	Active TSS	Fetal Kidney	kidney
29	chr12:51236400-51237200	Active TSS	Fetal Lung	lung
30	chr12:51236400-51237400	Active TSS	Placenta	Placenta
31	chr12:51236400-51237600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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