Variant report

Variant	rs6690552
Chromosome Location	chr1:221102671-221102672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12044903	1.00[AFR][1000 genomes]
rs12048193	1.00[AFR][1000 genomes]
rs2642419	1.00[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr1:221099200-221102800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:221099400-221102800	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:221099600-221102800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:221099800-221104200	Weak transcription	Psoas Muscle	Psoas
5	chr1:221100200-221104600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:221101200-221102800	Enhancers	Fetal Thymus	thymus
7	chr1:221101400-221103000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:221102000-221103000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:221102000-221103200	Enhancers	Colon Smooth Muscle	Colon

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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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