Variant report

Variant	rs5009356
Chromosome Location	chr12:105726291-105726292
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	FOS	chr12:105726053-105726423	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:105725821-105726422	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr12:105726178-105726363	MCF10A-Er-Src	breast:	n/a	n/a
4	PBX3	chr12:105725174-105726408	SK-N-SH	brain:	n/a	chr12:105725434-105725443
5	MYC	chr12:105725898-105726321	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:105725662-105726421	MCF10A-Er-Src	breast:	n/a	chr12:105725672-105725683
7	MYC	chr12:105725661-105726345	MCF10A-Er-Src	breast:	n/a	n/a
8	JUND	chr12:105725668-105726359	H1-hESC	embryonic stem cell:	n/a	chr12:105725672-105725683
9	POLR2A	chr12:105724077-105726492	ProgFib	skin:	n/a	n/a
10	FOS	chr12:105726100-105726416	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000264749	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10861401	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10861402	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112476	0.92[ASN][1000 genomes]
rs2060204	0.94[ASN][1000 genomes]
rs715167	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7300844	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7953481	0.86[ASN][1000 genomes]

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	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5009356	C12orf75	cis	Artery Tibial	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105724000-105726400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:105724200-105726600	Active TSS	NHDF-Ad	bronchial
3	chr12:105724200-105726800	Active TSS	Aorta	Aorta
4	chr12:105724400-105727800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:105725200-105726600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr12:105725200-105727800	Weak transcription	Psoas Muscle	Psoas
7	chr12:105725200-105728600	Enhancers	Placenta	Placenta
8	chr12:105725200-105734600	Weak transcription	Esophagus	oesophagus
9	chr12:105725400-105726400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:105725400-105726400	Flanking Active TSS	HMEC	breast
11	chr12:105725400-105726400	Flanking Active TSS	NH-A	brain
12	chr12:105725400-105726600	Flanking Active TSS	NHEK	skin
13	chr12:105725400-105726800	Flanking Active TSS	Dnd41	blood
14	chr12:105725600-105726400	Flanking Active TSS	NHLF	lung
15	chr12:105725600-105726800	Weak transcription	Brain Anterior Caudate	brain
16	chr12:105725600-105727000	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:105725600-105727000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:105725600-105727000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:105725600-105727000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:105725600-105727200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:105725600-105727400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:105725600-105729800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:105725600-105730200	Weak transcription	Pancreas	Pancrea
24	chr12:105725600-105747200	Weak transcription	Gastric	stomach
25	chr12:105725800-105726400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr12:105725800-105726400	Enhancers	Fetal Intestine Large	intestine
27	chr12:105725800-105726600	Enhancers	Stomach Mucosa	stomach
28	chr12:105725800-105726800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:105725800-105726800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:105725800-105727000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:105725800-105727200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:105725800-105727400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:105725800-105727800	Weak transcription	Fetal Stomach	stomach
34	chr12:105725800-105729000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:105725800-105729800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:105725800-105734600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:105726000-105726400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr12:105726000-105726600	Enhancers	Thymus	Thymus
39	chr12:105726000-105726800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:105726000-105726800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr12:105726000-105727000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:105726000-105727200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:105726000-105727200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr12:105726000-105727200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:105726000-105727200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:105726000-105727400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:105726000-105727400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr12:105726000-105727400	Enhancers	Fetal Thymus	thymus
49	chr12:105726000-105727400	Enhancers	HUVEC	blood vessel
50	chr12:105726000-105727800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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