Variant report

Variant	rs2730990
Chromosome Location	chr12:43102373-43102374
allele	A/G
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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730978	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730987	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730992	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4290298	0.97[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43097600-43102600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:43097800-43103000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:43098600-43102600	Enhancers	Fetal Muscle Leg	muscle
4	chr12:43100000-43104000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:43100000-43110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:43101200-43102400	Weak transcription	Fetal Stomach	stomach
7	chr12:43101200-43105600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:43101200-43110400	Weak transcription	HSMM	muscle
9	chr12:43101800-43102600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:43101800-43102600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:43101800-43102600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:43101800-43102600	Enhancers	Fetal Muscle Trunk	muscle
13	chr12:43101800-43102800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:43102000-43102400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:43102000-43102400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:43102000-43102600	Enhancers	Fetal Brain Male	brain
17	chr12:43102000-43107000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:43102200-43102400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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