Variant report

Variant	rs2727712
Chromosome Location	chr12:119667415-119667416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1426624	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1465516	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2555287	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2555288	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2555289	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2727709	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2727710	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2727713	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2727714	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2727715	0.95[EUR][1000 genomes]
rs2727716	0.94[EUR][1000 genomes]
rs6490245	0.88[ASN][1000 genomes]

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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv832528	chr12:119638211-119793401	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised 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	chr12:119663600-119667800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:119663600-119667800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:119663600-119667800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:119663600-119667800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:119663600-119667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:119663600-119668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:119663800-119667800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:119663800-119667800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:119664000-119667800	Weak transcription	Psoas Muscle	Psoas
10	chr12:119664000-119676800	Weak transcription	Lung	lung
11	chr12:119667200-119667600	Enhancers	Aorta	Aorta
12	chr12:119667200-119667600	Enhancers	K562	blood
13	chr12:119667400-119667800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:119667400-119669000	Enhancers	Primary hematopoietic stem cells	blood

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