Variant report

Variant	rs73050229
Chromosome Location	chr2:189766224-189766225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1516440	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1516441	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16830872	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17241638	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17291017	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17357358	0.93[AMR][1000 genomes]
rs17357387	0.93[AMR][1000 genomes]
rs17357408	0.93[AMR][1000 genomes]
rs1914028	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1914029	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1914030	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4308073	0.88[AMR][1000 genomes]
rs67712818	0.93[AMR][1000 genomes]
rs73033503	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73033510	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73050211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050212	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73050213	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73052303	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73052342	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875608	chr2:189753823-189837995	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189762200-189766600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:189763000-189767400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:189763000-189767800	Weak transcription	Fetal Stomach	stomach
4	chr2:189763000-189767800	Weak transcription	Ovary	ovary
5	chr2:189763000-189767800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:189763400-189766400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:189763400-189767200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:189763400-189767600	Weak transcription	Fetal Lung	lung
9	chr2:189763400-189767800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:189763600-189767600	Weak transcription	HSMM	muscle
11	chr2:189763800-189767600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:189764200-189766600	Weak transcription	NHDF-Ad	bronchial
13	chr2:189764600-189767800	Weak transcription	NHLF	lung
14	chr2:189765800-189766400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:189765800-189767800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links