Variant report

Variant	rs7202593
Chromosome Location	chr16:47917842-47917843
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13336450	0.93[AFR][1000 genomes]
rs28415596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28421488	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6500353	0.86[AFR][1000 genomes]
rs6500354	0.86[AFR][1000 genomes]
rs7205450	0.83[AFR][1000 genomes]
rs8045787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045934	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048189	0.83[AFR][1000 genomes]
rs8054600	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921499	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9931056	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935449	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9939344	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv833218	chr16:47869819-48051745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47913200-47920400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr16:47916000-47920200	Weak transcription	NHEK	skin
3	chr16:47917400-47918200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr16:47917400-47918600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:47917400-47918800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:47917400-47920200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:47917600-47918200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr16:47917600-47918800	Enhancers	HMEC	breast
9	chr16:47917600-47919600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:47917600-47921400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:47917600-47923800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr16:47917800-47919000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr16:47917800-47921200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr16:47917800-47922800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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