Variant report

Variant	rs2148934
Chromosome Location	chr13:40031804-40031805
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1014636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1475175	0.85[CEU][hapmap]
rs1475176	0.83[CEU][hapmap]
rs1927196	0.85[CEU][hapmap]
rs2018	0.85[CEU][hapmap]
rs4499118	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6563704	0.94[AFR][1000 genomes]
rs6563712	0.82[CEU][hapmap]
rs7322026	0.85[CEU][hapmap]
rs7324077	0.88[CEU][hapmap]
rs7489811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981363	0.83[CEU][hapmap]
rs7982627	0.83[CEU][hapmap]
rs7990079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8002691	0.83[CEU][hapmap]
rs912044	0.83[CEU][hapmap]
rs9315688	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9315691	0.83[CEU][hapmap]
rs9315692	0.85[CEU][hapmap]
rs943568	0.83[AMR][1000 genomes]
rs9548785	0.84[CEU][hapmap]
rs9576808	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576809	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576811	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576812	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9576824	0.84[CEU][hapmap]
rs9594334	0.83[CEU][hapmap]
rs9594335	0.85[CEU][hapmap]
rs9594336	0.84[CEU][hapmap]
rs9603543	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9603550	0.84[CEU][hapmap]
rs9741649	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1011	chr13:40008962-40034177	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv561536	chr13:40015948-40043224	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40023400-40035000	Weak transcription	Aorta	Aorta
2	chr13:40025600-40033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:40026600-40033400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:40027200-40033200	Weak transcription	HSMMtube	muscle
5	chr13:40027400-40033400	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:40028200-40032400	Weak transcription	Ovary	ovary
7	chr13:40028200-40032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:40028200-40033200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr13:40030200-40032400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:40030400-40032600	Weak transcription	Left Ventricle	heart
11	chr13:40030400-40033400	Weak transcription	Right Atrium	heart
12	chr13:40030400-40034800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr13:40030400-40036000	Weak transcription	Fetal Lung	lung
14	chr13:40030400-40036200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr13:40030600-40032200	Weak transcription	Fetal Heart	heart
16	chr13:40031200-40032000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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