Variant report

Variant	rs349031
Chromosome Location	chr19:44315770-44315771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10407794	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189445	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2033492	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195980	0.94[ASN][1000 genomes]
rs34424221	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs349026	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs349027	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs349035	0.94[ASN][1000 genomes]
rs349036	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs349037	0.94[ASN][1000 genomes]
rs349054	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs349056	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs364691	0.80[ASN][1000 genomes]
rs365785	0.83[ASN][1000 genomes]
rs7251009	0.96[ASN][1000 genomes]
rs7258953	0.94[ASN][1000 genomes]
rs797272	0.82[AMR][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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44313800-44319200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr19:44314000-44318800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:44314200-44318800	Weak transcription	HMEC	breast
4	chr19:44314200-44318800	Weak transcription	NHEK	skin
5	chr19:44314800-44316200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:44315600-44316400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:44315600-44317800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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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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