Variant report

Variant	rs4549068
Chromosome Location	chr2:37611046-37611047
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10165491	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10189370	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1024811	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12475384	0.84[ASN][1000 genomes]
rs12987182	0.83[AMR][1000 genomes]
rs13002028	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13003908	0.90[ASN][1000 genomes]
rs13014680	0.86[AMR][1000 genomes]
rs13035644	0.84[CHB][hapmap];0.86[AMR][1000 genomes]
rs17020669	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2373002	0.86[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2373106	0.82[AMR][1000 genomes]
rs2373107	0.84[AMR][1000 genomes]
rs34105303	0.86[AMR][1000 genomes]
rs34652606	0.86[AMR][1000 genomes]
rs34658454	0.86[AMR][1000 genomes]
rs4670705	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6732454	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs71437580	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37604600-37616800	Weak transcription	Adipose Nuclei	Adipose
2	chr2:37605400-37611400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:37605800-37611200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:37605800-37613800	Weak transcription	HSMMtube	muscle
5	chr2:37605800-37614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:37606000-37614200	Weak transcription	NHLF	lung
7	chr2:37607400-37611400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:37607400-37614000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:37607400-37614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:37607400-37618200	Weak transcription	Right Atrium	heart
11	chr2:37607600-37613600	Weak transcription	NHDF-Ad	bronchial
12	chr2:37607600-37614600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:37608200-37611400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:37608200-37611400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:37609200-37615200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:37609200-37616600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:37609200-37616800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:37609800-37611400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:37609800-37611400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:37611000-37612000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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