Variant report

Variant	rs2996677
Chromosome Location	chr1:222181935-222181936
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:6)

rs_ID	r²[population]
rs2790759	1.00[AMR][1000 genomes]
rs2800857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2800858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58894876	0.88[AFR][1000 genomes]
rs61277766	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124572	0.88[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222169200-222184000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:222181000-222182000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:222181000-222183200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:222181400-222182200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:222181400-222182600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:222181400-222182600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:222181600-222182400	Weak transcription	Osteobl	bone
8	chr1:222181800-222182600	Enhancers	Psoas Muscle	Psoas
9	chr1:222181800-222182800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:222181800-222182800	Weak transcription	Muscle Satellite Cultured Cells	--

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Input of quick search could be:

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

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