Variant report

Variant	rs12818553
Chromosome Location	chr12:9015740-9015741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11610808	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11612600	0.91[ASN][1000 genomes]
rs1558526	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35687600	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35800043	0.87[AMR][1000 genomes]
rs36008508	0.87[AMR][1000 genomes]
rs55823587	0.91[ASN][1000 genomes]
rs61919508	0.86[AFR][1000 genomes]
rs71447540	0.86[AMR][1000 genomes]
rs7294406	0.87[AMR][1000 genomes]
rs7304324	0.82[AMR][1000 genomes]
rs73047829	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7316141	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049949	chr12:9008609-9049198	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3338111	chr12:9014985-9019683	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3363045	chr12:9015685-9019183	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3355863	chr12:9015710-9019058	Enhancers Weak transcription	CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8982200-9022000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:8983400-9017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:8987600-9040000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:8994800-9016600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:8996000-9040000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:8999000-9016400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:9005200-9017800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:9007000-9029600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:9007200-9027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:9011800-9021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:9011800-9029800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:9012600-9020400	Weak transcription	Esophagus	oesophagus
13	chr12:9013600-9019200	Weak transcription	K562	blood
14	chr12:9013600-9029400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:9013800-9033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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