Variant report

Variant	rs4244650
Chromosome Location	chr1:56290747-56290748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10493182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10493184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11206666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12021672	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12022490	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12028981	0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12033494	0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12034422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12040991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12042939	0.93[AMR][1000 genomes]
rs12045580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12403234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12404504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12406573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12407474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12409446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12563455	0.88[AMR][1000 genomes]
rs17112899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17112961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17113003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4130692	0.93[ASN][1000 genomes]
rs4244652	0.82[AMR][1000 genomes]
rs4244653	0.82[AMR][1000 genomes]
rs4330956	0.94[AMR][1000 genomes]
rs4353139	0.82[AMR][1000 genomes]
rs4367815	0.85[CHB][hapmap]
rs4367817	1.00[MEX][hapmap]
rs4559553	0.88[AMR][1000 genomes]
rs4926702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4927265	0.85[AMR][1000 genomes]
rs4927273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4927278	0.81[AMR][1000 genomes]
rs6588580	0.94[AMR][1000 genomes]
rs6687146	0.88[AMR][1000 genomes]
rs7549387	0.93[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	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	nsv1002958	chr1:56278696-56295112	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56280400-56291000	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:56283000-56293000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:56283200-56292400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:56287800-56291000	Enhancers	Fetal Intestine Large	intestine
5	chr1:56288000-56292000	Enhancers	Fetal Lung	lung
6	chr1:56289400-56292800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:56289600-56292000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:56289600-56292000	Weak transcription	Fetal Stomach	stomach
9	chr1:56289600-56292400	Weak transcription	Osteobl	bone
10	chr1:56289800-56290800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:56289800-56290800	Weak transcription	NHLF	lung
12	chr1:56289800-56291200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:56289800-56291200	Weak transcription	Placenta	Placenta
14	chr1:56289800-56292000	Weak transcription	HSMMtube	muscle
15	chr1:56289800-56292200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:56289800-56292400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:56289800-56292600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:56289800-56293000	Weak transcription	NH-A	brain
19	chr1:56290200-56291200	Weak transcription	Fetal Intestine Small	intestine
20	chr1:56290400-56290800	Weak transcription	NHDF-Ad	bronchial
21	chr1:56290600-56290800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:56290600-56291400	Enhancers	Fetal Kidney	kidney

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