Variant report

Variant	rs7974338
Chromosome Location	chr12:106690712-106690713
allele	G/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	GTF3C2	chr12:106690091-106690721	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106681884..106684629-chr12:106690142..106692721,2	MCF-7	breast:
2	chr12:106688729..106691851-chr12:106693637..106696966,3	MCF-7	breast:

Variant related genes	Relation type
TCP11L2	TF binding region
ENSG00000166046	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10778461	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861571	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112933	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112935	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12370430	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12424952	0.80[EUR][1000 genomes]
rs1983004	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409465	0.90[EUR][1000 genomes]
rs58956914	0.86[EUR][1000 genomes]
rs7132162	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980757	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 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	chr12:106680000-106695200	Weak transcription	Right Atrium	heart
2	chr12:106683200-106693000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:106684400-106691400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:106685800-106692800	Weak transcription	Fetal Intestine Large	intestine
5	chr12:106685800-106695200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:106685800-106695200	Weak transcription	Fetal Lung	lung
7	chr12:106687000-106691200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:106688400-106693000	Weak transcription	K562	blood
9	chr12:106689000-106695800	Weak transcription	Lung	lung
10	chr12:106689600-106690800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:106689600-106690800	Enhancers	Stomach Mucosa	stomach
12	chr12:106689600-106691800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:106689800-106690800	Enhancers	HMEC	breast
14	chr12:106689800-106690800	Enhancers	Osteobl	bone
15	chr12:106689800-106691800	Enhancers	Fetal Heart	heart
16	chr12:106689800-106691800	Enhancers	HepG2	liver
17	chr12:106689800-106691800	Enhancers	NHEK	skin
18	chr12:106690000-106690800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:106690000-106690800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:106690200-106691200	Enhancers	Hela-S3	cervix
21	chr12:106690200-106693000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:106690200-106695400	Weak transcription	NHLF	lung
23	chr12:106690400-106693000	Weak transcription	NHDF-Ad	bronchial
24	chr12:106690600-106691000	Enhancers	A549	lung
25	chr12:106690600-106692800	Weak transcription	Placenta	Placenta
26	chr12:106690600-106693000	Weak transcription	Left Ventricle	heart
27	chr12:106690600-106694600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:106690600-106694600	Weak transcription	HSMM	muscle
29	chr12:106690600-106695000	Weak transcription	NH-A	brain
30	chr12:106690600-106695200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:106690600-106695400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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