Variant report

Variant	rs6723461
Chromosome Location	chr2:212989410-212989411
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11903314	1.00[CEU][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16847491	1.00[CEU][hapmap]
rs16847551	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16847554	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16847741	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16847746	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16847747	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16847775	0.81[AMR][1000 genomes]
rs16847783	0.81[AMR][1000 genomes]
rs58834228	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60076681	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6732730	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs73988951	0.82[EUR][1000 genomes]
rs7559605	0.81[AMR][1000 genomes]
rs7560757	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7573642	0.81[AMR][1000 genomes]
rs7592809	1.00[CEU][hapmap]

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	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875804	chr2:212891401-212997024	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212985000-212989600	Weak transcription	Aorta	Aorta
2	chr2:212989200-212989600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:212989200-212989600	Flanking Active TSS	Fetal Intestine Small	intestine
4	chr2:212989200-212989600	Flanking Active TSS	NHEK	skin
5	chr2:212989200-212989800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:212989200-212989800	Enhancers	Fetal Heart	heart
7	chr2:212989200-212990000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:212989200-212990000	Active TSS	Brain Anterior Caudate	brain
9	chr2:212989400-212989600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:212989400-212989600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:212989400-212989600	Active TSS	Fetal Intestine Large	intestine
12	chr2:212989400-212989600	Flanking Active TSS	Pancreas	Pancrea
13	chr2:212989400-212989800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr2:212989400-212989800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:212989400-212989800	Enhancers	Left Ventricle	heart
16	chr2:212989400-212989800	Active TSS	A549	lung
17	chr2:212989400-212989800	Active TSS	HMEC	breast
18	chr2:212989400-212989800	Enhancers	HUVEC	blood vessel

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