Variant report

Variant	rs17327526
Chromosome Location	chr5:112720648-112720649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11241203	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs164253	0.83[AFR][1000 genomes]
rs2416282	0.82[ASW][hapmap];1.00[LWK][hapmap]
rs255856	0.83[LWK][hapmap]
rs27566	0.83[LWK][hapmap]
rs4639215	1.00[LWK][hapmap]
rs485210	0.82[ASW][hapmap];1.00[LWK][hapmap]
rs492346	0.82[ASW][hapmap];0.83[LWK][hapmap]
rs675353	0.83[LWK][hapmap]
rs9326895	1.00[LWK][hapmap]

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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112717000-112729400	Weak transcription	Fetal Stomach	stomach
2	chr5:112718800-112731400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:112719200-112722200	Weak transcription	NHEK	skin
4	chr5:112719400-112721400	Weak transcription	HMEC	breast
5	chr5:112719400-112724000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:112720200-112720800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:112720200-112721000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:112720400-112720800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr5:112720400-112720800	Enhancers	Esophagus	oesophagus
10	chr5:112720400-112721000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:112720600-112720800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:112720600-112720800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
13	chr5:112720600-112721000	Enhancers	Stomach Mucosa	stomach

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