Variant report

Variant	rs214673
Chromosome Location	chr12:47673988-47673989
allele	A/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	CEBPB	chr12:47673587-47673989	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000257925	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs214676	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs214677	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs214678	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214679	1.00[CEU][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214680	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs214682	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs855184	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs855185	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47665000-47675400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:47668600-47675800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:47671800-47674000	Enhancers	Hela-S3	cervix
4	chr12:47671800-47676200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:47672000-47674400	Weak transcription	Pancreas	Pancrea
6	chr12:47672000-47674600	Weak transcription	Lung	lung
7	chr12:47672000-47676000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:47672000-47677800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:47672200-47674600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:47672600-47674400	Weak transcription	Stomach Mucosa	stomach
11	chr12:47672600-47675600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:47672800-47674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:47672800-47674200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:47672800-47674400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:47672800-47674400	Weak transcription	HSMM	muscle
16	chr12:47672800-47674400	Weak transcription	NH-A	brain
17	chr12:47672800-47674600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:47672800-47674800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:47672800-47674800	Weak transcription	Osteobl	bone
20	chr12:47672800-47675400	Weak transcription	NHDF-Ad	bronchial
21	chr12:47672800-47676000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:47672800-47676800	Enhancers	HSMMtube	muscle
23	chr12:47672800-47680200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:47673000-47674200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:47673000-47674600	Weak transcription	Primary T cells from cord blood	blood
26	chr12:47673000-47674800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:47673000-47675600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:47673000-47676200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:47673400-47674400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:47673400-47674400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:47673400-47674400	Weak transcription	K562	blood
32	chr12:47673400-47674600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:47673400-47674600	Enhancers	Placenta	Placenta
34	chr12:47673400-47674600	Enhancers	A549	lung
35	chr12:47673400-47675400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:47673400-47675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:47673600-47674000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:47673600-47674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:47673600-47674400	Weak transcription	NHEK	skin
40	chr12:47673800-47674000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:47673800-47674000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:47673800-47674200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:47673800-47674200	Weak transcription	HMEC	breast

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