Variant report

Variant	rs2715952
Chromosome Location	chr4:121239258-121239259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12506043	0.83[ASN][1000 genomes]
rs1396536	0.84[ASN][1000 genomes]
rs1508999	0.84[ASN][1000 genomes]
rs2036694	0.84[ASN][1000 genomes]
rs2036695	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2036696	0.97[ASN][1000 genomes]
rs2662702	0.86[ASN][1000 genomes]
rs2662704	0.92[ASN][1000 genomes]
rs2662708	0.92[ASN][1000 genomes]
rs2662709	0.92[ASN][1000 genomes]
rs2662715	0.98[ASN][1000 genomes]
rs2662720	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2662721	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2662722	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2662723	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2662724	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2662727	0.86[ASN][1000 genomes]
rs2662730	0.84[ASN][1000 genomes]
rs2662731	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2662732	0.84[ASN][1000 genomes]
rs2662735	0.88[ASN][1000 genomes]
rs2662738	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2662739	0.88[ASN][1000 genomes]
rs2662741	0.97[ASN][1000 genomes]
rs2662742	0.84[ASN][1000 genomes]
rs2662743	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2662747	0.88[ASN][1000 genomes]
rs2662760	0.93[ASN][1000 genomes]
rs2693755	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2693756	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2693757	0.85[ASN][1000 genomes]
rs2693758	0.98[ASN][1000 genomes]
rs2693760	0.85[CHB][hapmap]
rs2693765	0.87[ASN][1000 genomes]
rs2715951	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2715953	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2715957	0.93[ASN][1000 genomes]
rs2715958	0.98[ASN][1000 genomes]
rs2715959	0.98[ASN][1000 genomes]
rs2715960	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2715965	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2715966	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2715967	0.84[ASN][1000 genomes]
rs2715968	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2715978	0.92[ASN][1000 genomes]
rs2715983	0.86[ASN][1000 genomes]
rs2715988	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715989	0.88[ASN][1000 genomes]
rs2715992	0.85[CHB][hapmap]
rs2716009	0.92[ASN][1000 genomes]
rs2716010	0.91[ASN][1000 genomes]
rs6534178	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs906716	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs955002	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv595333	chr4:121093248-121440368	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005240	chr4:121093285-121420997	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121235800-121242400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:121238400-121240400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:121238600-121240000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:121238600-121240400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:121238800-121241400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:121239000-121239400	Weak transcription	Fetal Lung	lung
7	chr4:121239000-121239600	Enhancers	Brain Germinal Matrix	brain
8	chr4:121239000-121240400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:121239000-121240400	Enhancers	Fetal Heart	heart

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