Variant report

Variant	rs59627911
Chromosome Location	chr1:84582648-84582649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2139931	0.80[AFR][1000 genomes]
rs2684911	0.80[AFR][1000 genomes]
rs2812451	0.80[AFR][1000 genomes]
rs74095506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095511	0.92[AFR][1000 genomes];1.00[AMR][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	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84569000-84585000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:84569200-84587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:84569200-84599600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:84569400-84587400	Weak transcription	Ovary	ovary
5	chr1:84569800-84583600	Weak transcription	HSMM	muscle
6	chr1:84574000-84583600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:84574000-84583600	Weak transcription	HMEC	breast
8	chr1:84574000-84587400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:84574800-84585600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:84576000-84591800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:84581800-84582800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:84582200-84582800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:84582400-84583000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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