Variant report

Variant	rs1866073
Chromosome Location	chr12:104303061-104303062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr12:104302673-104303090	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr12:104302501-104303170	SK-N-SH	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
2	chr12:104300942..104303237-chr12:104305354..104306983,2	K562	blood:
3	chr12:104296301..104298365-chr12:104301480..104303104,2	K562	blood:
4	chr12:104302164..104305303-chr12:104321451..104326533,4	MCF-7	breast:
5	chr12:104299931..104303136-chr12:104307150..104309681,4	K562	blood:
6	chr12:104301059..104305002-chr12:104308299..104311769,5	K562	blood:
7	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:
8	chr12:104301536..104303979-chr12:104529834..104532594,2	K562	blood:
9	chr12:104296301..104297835-chr12:104301480..104303235,2	K562	blood:
10	chr12:104300652..104303185-chr12:104457889..104460360,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000120820	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction

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

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

rs_ID	r²[population]
rs1165666	0.97[ASN][1000 genomes]
rs1165673	0.97[ASN][1000 genomes]
rs1165676	0.97[ASN][1000 genomes]
rs1165677	0.97[ASN][1000 genomes]
rs1165678	0.97[ASN][1000 genomes]
rs1165682	0.95[ASN][1000 genomes]
rs1165684	0.86[ASN][1000 genomes]
rs1183212	0.95[ASN][1000 genomes]
rs1437502	0.80[ASN][1000 genomes]
rs1866070	0.97[ASN][1000 genomes]
rs2722188	0.95[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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104295800-104303200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:104301000-104303600	Weak transcription	Spleen	Spleen
4	chr12:104301400-104304200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:104301400-104304200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:104301400-104304200	Enhancers	HMEC	breast
7	chr12:104301400-104304400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:104301400-104304400	Enhancers	HSMMtube	muscle
9	chr12:104302000-104303600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:104302200-104303800	Enhancers	NHDF-Ad	bronchial
11	chr12:104302200-104304200	Enhancers	HSMM	muscle
12	chr12:104302200-104304200	Enhancers	Osteobl	bone
13	chr12:104302200-104304400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:104302400-104303200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:104302400-104304000	Weak transcription	Thymus	Thymus
16	chr12:104302400-104304200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:104302400-104304200	Enhancers	NHEK	skin
18	chr12:104302600-104303600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:104302600-104304000	Enhancers	NH-A	brain
20	chr12:104302800-104303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:104302800-104304000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:104302800-104306000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:104303000-104303400	Flanking Active TSS	Fetal Heart	heart
24	chr12:104303000-104304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:104303000-104304000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:104303000-104304000	Weak transcription	NHLF	lung
27	chr12:104303000-104305600	Weak transcription	Fetal Muscle Leg	muscle

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