Variant report

Variant	rs34355615
Chromosome Location	chr4:95976324-95976325
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10516957	0.90[ASN][1000 genomes]
rs13103264	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13103826	0.90[EUR][1000 genomes]
rs13134042	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13134763	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13134993	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13152580	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1816461	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1836260	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1897810	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4699408	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7671545	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34355615	BMPR1B	cis	Heart Left Ventricle	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95967200-95982800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:95972200-95978200	Enhancers	Dnd41	blood
3	chr4:95973000-95979400	Weak transcription	Ovary	ovary
4	chr4:95973000-95980200	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:95973000-95983000	Weak transcription	Left Ventricle	heart
6	chr4:95974000-95976800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:95974400-95980200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:95974600-95979800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:95975800-95977000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:95975800-95982400	Weak transcription	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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