Variant report

Variant	rs7198239
Chromosome Location	chr16:48047841-48047842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12103023	0.90[AMR][1000 genomes]
rs13330065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13330477	1.00[AMR][1000 genomes]
rs13337029	0.90[AMR][1000 genomes]
rs1985323	1.00[MEX][hapmap]
rs28508022	1.00[AMR][1000 genomes]
rs3887008	1.00[AMR][1000 genomes]
rs3899422	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6500353	1.00[MEX][hapmap]
rs7184685	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs7185342	0.90[AMR][1000 genomes]
rs7190168	0.90[AMR][1000 genomes]
rs7194254	0.90[AMR][1000 genomes]
rs7196906	1.00[AMR][1000 genomes]
rs7199647	1.00[AMR][1000 genomes]
rs7200033	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202404	1.00[AMR][1000 genomes]
rs74016242	0.90[AMR][1000 genomes]
rs74016243	0.90[AMR][1000 genomes]
rs74016244	0.90[AMR][1000 genomes]
rs74016247	1.00[AMR][1000 genomes]
rs74016251	0.90[AMR][1000 genomes]
rs8044501	1.00[AMR][1000 genomes]
rs8053889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056932	0.90[AMR][1000 genomes]
rs9923542	1.00[AMR][1000 genomes]
rs9926879	1.00[MEX][hapmap]
rs9934257	1.00[AMR][1000 genomes]
rs9935906	0.90[AMR][1000 genomes]
rs9938295	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs9939073	0.90[AMR][1000 genomes]
rs9940106	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	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
3	nsv1798	chr16:48035871-48080541	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48045800-48049200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr16:48046000-48049200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:48046000-48049200	Enhancers	Fetal Brain Male	brain
4	chr16:48046600-48049400	Enhancers	HMEC	breast
5	chr16:48047000-48049400	Enhancers	NH-A	brain
6	chr16:48047200-48048400	Enhancers	NHEK	skin
7	chr16:48047200-48048800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:48047200-48049200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:48047200-48049400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:48047400-48049200	Enhancers	Brain Germinal Matrix	brain
11	chr16:48047600-48049200	Enhancers	Fetal Brain Female	brain

Quick Search:

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

what's new

Quick links