Variant report

Variant	rs2730992
Chromosome Location	chr12:43099740-43099741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17092157	1.00[EUR][1000 genomes]
rs17092181	1.00[EUR][1000 genomes]
rs17092182	1.00[EUR][1000 genomes]
rs17092198	1.00[EUR][1000 genomes]
rs2678127	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730978	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730987	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730988	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4290298	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4489809	1.00[EUR][1000 genomes]
rs56414128	1.00[EUR][1000 genomes]
rs73277820	1.00[EUR][1000 genomes]
rs74080157	1.00[EUR][1000 genomes]
rs74080160	1.00[EUR][1000 genomes]
rs9669400	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43097000-43102000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:43097400-43099800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:43097600-43102600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:43097800-43103000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:43098200-43100600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:43098200-43100600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:43098200-43100800	Enhancers	NHEK	skin
8	chr12:43098200-43101200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:43098200-43101200	Enhancers	HMEC	breast
10	chr12:43098200-43101200	Enhancers	HSMM	muscle
11	chr12:43098600-43102600	Enhancers	Fetal Muscle Leg	muscle
12	chr12:43098800-43099800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:43098800-43100000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:43098800-43100000	Enhancers	HUVEC	blood vessel
15	chr12:43098800-43100200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:43098800-43100400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:43098800-43100600	Enhancers	NH-A	brain
18	chr12:43098800-43101200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:43098800-43101200	Enhancers	HSMMtube	muscle
20	chr12:43098800-43101400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:43099000-43100400	Enhancers	Fetal Heart	heart
22	chr12:43099000-43100800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:43099000-43102200	Enhancers	Adipose Nuclei	Adipose
24	chr12:43099200-43099800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:43099200-43099800	Weak transcription	Spleen	Spleen
26	chr12:43099400-43100200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:43099400-43100800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:43099600-43100000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:43099600-43100000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:43099600-43100000	Enhancers	Pancreas	Pancrea
31	chr12:43099600-43100200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:43099600-43100200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:43099600-43100200	Enhancers	Fetal Muscle Trunk	muscle
34	chr12:43099600-43100200	Enhancers	Left Ventricle	heart
35	chr12:43099600-43100200	Enhancers	Osteobl	bone
36	chr12:43099600-43100400	Enhancers	NHDF-Ad	bronchial
37	chr12:43099600-43101000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:43099600-43101000	Enhancers	Fetal Lung	lung
39	chr12:43099600-43101000	Enhancers	Ovary	ovary
40	chr12:43099600-43101200	Enhancers	Fetal Stomach	stomach
41	chr12:43099600-43101200	Enhancers	Skeletal Muscle Male	skeletal muscle

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