Variant report

Variant	rs12512478
Chromosome Location	chr4:95930314-95930315
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95924834..95926933-chr4:95930140..95932231,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10018945	0.99[ASN][1000 genomes]
rs10023544	0.86[ASN][1000 genomes]
rs1154847	0.85[AFR][1000 genomes]
rs12500473	0.97[ASN][1000 genomes]
rs12644723	0.98[ASN][1000 genomes]
rs12647875	0.96[ASN][1000 genomes]
rs13102404	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13104170	0.99[ASN][1000 genomes]
rs1347345	0.99[ASN][1000 genomes]
rs1348605	0.97[ASN][1000 genomes]
rs1444922	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1545328	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1822827	0.82[AFR][1000 genomes]
rs28663472	0.91[ASN][1000 genomes]
rs3775041	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4299590	0.85[AFR][1000 genomes]
rs4586955	0.85[AFR][1000 genomes]
rs6532526	0.98[ASN][1000 genomes]
rs6532527	0.98[ASN][1000 genomes]
rs6815044	0.97[ASN][1000 genomes]
rs6821072	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6831094	0.95[ASN][1000 genomes]
rs6832300	0.97[ASN][1000 genomes]
rs6850046	0.83[AFR][1000 genomes]
rs716191	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs723169	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs723170	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7662504	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679627	0.91[ASN][1000 genomes]
rs7681859	0.88[AFR][1000 genomes]
rs7681920	0.99[ASN][1000 genomes]
rs7698733	0.85[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	nsv997787	chr4:95859839-95934105	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv537190	chr4:95859839-95934105	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12512478	BMPR1B	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95924000-95938200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:95925400-95933800	Weak transcription	A549	lung

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