Variant report

Variant	rs73918425
Chromosome Location	chr2:12173414-12173415
allele	A/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	POLR2A	chr2:12171335-12176486	GM12891	blood:	n/a	n/a
2	TEAD4	chr2:12173088-12173500	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr2:12171416-12174858	Raji	blood:	n/a	n/a
4	E2F6	chr2:12173118-12173686	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000238503	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12463701	1.00[AMR][1000 genomes]
rs12464227	1.00[AMR][1000 genomes]
rs12469736	1.00[AMR][1000 genomes]
rs12471363	1.00[AMR][1000 genomes]
rs12475585	1.00[AMR][1000 genomes]
rs12476249	1.00[AMR][1000 genomes]
rs28420399	1.00[AMR][1000 genomes]
rs56260961	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59609793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60195725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60873627	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73915889	1.00[AMR][1000 genomes]
rs73915899	1.00[AMR][1000 genomes]
rs73915902	1.00[AMR][1000 genomes]
rs73918407	1.00[AMR][1000 genomes]
rs73918410	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918411	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918413	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918415	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918416	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73918432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3511188	chr2:12173235-12173427	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12171200-12178000	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:12171400-12173600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:12172200-12174000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:12172200-12174000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:12172200-12174200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:12172200-12176000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:12172400-12173800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:12172400-12174400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:12172400-12175800	Weak transcription	K562	blood
10	chr2:12172600-12173800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:12172600-12173800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:12172600-12173800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:12172600-12173800	Enhancers	HSMM	muscle
14	chr2:12172600-12174000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:12172600-12174000	Enhancers	NHLF	lung
16	chr2:12172600-12174200	Enhancers	NHDF-Ad	bronchial
17	chr2:12172800-12174000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:12172800-12175400	Weak transcription	Ovary	ovary
19	chr2:12172800-12176000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:12173000-12174000	Enhancers	Osteobl	bone
21	chr2:12173200-12173600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:12173200-12174000	Enhancers	NH-A	brain
23	chr2:12173400-12173600	Enhancers	HSMMtube	muscle
24	chr2:12173400-12176600	Enhancers	GM12878-XiMat	blood
25	chr2:12173400-12177600	Enhancers	Primary B cells from cord blood	blood

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