Variant report

Variant	rs28699313
Chromosome Location	chr17:46557985-46557986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2044985	1.00[ASN][1000 genomes]
rs35132860	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274478	1.00[ASN][1000 genomes]
rs57183284	1.00[ASN][1000 genomes]
rs7223415	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893371	1.00[ASN][1000 genomes]
rs9893775	0.81[EUR][1000 genomes]
rs9898155	1.00[ASN][1000 genomes]
rs9899351	0.81[EUR][1000 genomes]
rs9908329	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9913141	0.81[EUR][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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46550800-46559000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr17:46550800-46559000	Weak transcription	NH-A	brain
3	chr17:46551000-46558400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr17:46554200-46564600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr17:46555000-46566000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:46556000-46558800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:46556200-46559400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:46556200-46560400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr17:46556200-46560400	Weak transcription	Fetal Thymus	thymus
10	chr17:46556200-46560800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr17:46556200-46561000	Weak transcription	Primary B cells from cord blood	blood
12	chr17:46556400-46559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:46556400-46560400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:46556400-46560600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr17:46556600-46559400	Weak transcription	GM12878-XiMat	blood
16	chr17:46556600-46560400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:46556600-46560400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:46556800-46559200	Weak transcription	K562	blood
19	chr17:46557400-46560200	Weak transcription	Primary hematopoietic stem cells	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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