Variant report

Variant	rs16825608
Chromosome Location	chr1:186596102-186596103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10489398	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16825635	1.00[AMR][1000 genomes]
rs16825669	1.00[AMR][1000 genomes]
rs20415	1.00[AMR][1000 genomes]
rs20419	1.00[AMR][1000 genomes]
rs41313914	1.00[AMR][1000 genomes]
rs4648304	1.00[AMR][1000 genomes]
rs55862715	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74136827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7539518	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186587800-186596200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:186591200-186596200	Weak transcription	Osteobl	bone
3	chr1:186591800-186596200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:186592600-186602000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:186592800-186597000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:186593200-186600200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:186594800-186596200	Enhancers	Stomach Smooth Muscle	stomach
8	chr1:186594800-186596600	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:186594800-186596600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:186594800-186596800	Enhancers	HUVEC	blood vessel
11	chr1:186594800-186597400	Enhancers	Colon Smooth Muscle	Colon
12	chr1:186595200-186599000	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:186595600-186596200	Active TSS	Right Atrium	heart
14	chr1:186595600-186596400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:186595600-186596400	Enhancers	Fetal Heart	heart
16	chr1:186595800-186596200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:186595800-186596600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:186595800-186596800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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