Variant report

Variant	rs13134993
Chromosome Location	chr4:95953741-95953742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1035810	0.81[EUR][1000 genomes]
rs10516957	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1158792	0.82[EUR][1000 genomes]
rs1158793	0.82[EUR][1000 genomes]
rs12506593	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13103264	0.86[CEU][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13103826	0.80[EUR][1000 genomes]
rs13134042	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13134763	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs13152580	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1373647	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs17022863	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17022883	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs17022885	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs17022989	0.80[EUR][1000 genomes]
rs1816461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1836260	0.86[CEU][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1897810	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34355615	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4299590	0.81[YRI][hapmap]
rs4512000	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4699408	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6532530	0.81[EUR][1000 genomes]
rs6822629	0.80[EUR][1000 genomes]
rs7671545	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9997720	0.80[YRI][hapmap]

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	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv879622	chr4:95917980-95984379	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13134993	BMPR1B	cis	Heart Left Ventricle	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95948200-95966600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:95949800-95956800	Weak transcription	A549	lung

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