Variant report

Variant	rs72994229
Chromosome Location	chr3:146274384-146274385
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56691733	0.90[AFR][1000 genomes]
rs58725636	0.91[AFR][1000 genomes]
rs60140018	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994205	0.82[AFR][1000 genomes]
rs72994217	0.91[AFR][1000 genomes]
rs72994222	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73865798	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014493	chr3:146255594-146288414	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
2	nsv432489	chr3:146271370-146323969	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146270000-146284000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:146272200-146275600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:146272400-146275600	Weak transcription	Primary B cells from cord blood	blood
4	chr3:146272600-146275200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr3:146272600-146275400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr3:146272600-146275400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr3:146272600-146275400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:146272800-146274600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:146274200-146274600	Enhancers	HMEC	breast

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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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