Variant report

Variant	rs2407249
Chromosome Location	chr13:49283795-49283796
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11617924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942773	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942774	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332008	0.83[AFR][1000 genomes]
rs7333434	0.81[AFR][1000 genomes]
rs9595965	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595966	0.83[AFR][1000 genomes]
rs9595967	0.83[AFR][1000 genomes]
rs9595970	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595972	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2407249	RCBTB1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49259000-49302200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:49264000-49283800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr13:49278600-49283800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:49279200-49284200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr13:49279600-49284600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr13:49281600-49284000	Strong transcription	Dnd41	blood
7	chr13:49281800-49285800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr13:49282000-49284000	Weak transcription	Left Ventricle	heart
9	chr13:49282000-49284400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:49282600-49284000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:49282800-49284000	Enhancers	NHEK	skin
12	chr13:49283200-49285600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr13:49283400-49283800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:49283600-49283800	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr13:49283600-49285200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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