Variant report

Variant	rs1545328
Chromosome Location	chr4:95912925-95912926
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95912061..95914592-chr4:96007501..96009488,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12512478	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13102404	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13103406	0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs13103870	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs13111378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13118960	0.89[ASN][1000 genomes]
rs13128282	0.92[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs13128586	0.88[AFR][1000 genomes]
rs13129054	0.88[AFR][1000 genomes]
rs13146146	0.89[ASN][1000 genomes]
rs13152791	0.93[ASN][1000 genomes]
rs1444922	0.94[ASW][hapmap];0.85[CEU][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1545326	0.94[LWK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs17344975	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17403454	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17404327	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs17411701	0.89[ASN][1000 genomes]
rs17411860	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs34484245	0.89[ASN][1000 genomes]
rs34745188	0.87[ASN][1000 genomes]
rs34755714	0.94[ASN][1000 genomes]
rs35653658	0.94[ASN][1000 genomes]
rs35697886	0.90[ASN][1000 genomes]
rs35888953	0.90[ASN][1000 genomes]
rs35966830	0.90[ASN][1000 genomes]
rs3775031	0.80[JPT][hapmap]
rs3775041	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4145993	0.81[YRI][hapmap];0.88[AFR][1000 genomes]
rs4145994	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4699831	0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs62316229	0.95[ASN][1000 genomes]
rs62316236	0.93[ASN][1000 genomes]
rs62316238	0.89[ASN][1000 genomes]
rs62316240	0.86[ASN][1000 genomes]
rs6815593	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6815752	0.89[ASN][1000 genomes]
rs6821072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6829326	0.94[ASN][1000 genomes]
rs6854585	0.90[ASN][1000 genomes]
rs6855319	0.90[ASN][1000 genomes]
rs716191	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs723169	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723170	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7377902	0.89[ASN][1000 genomes]
rs7662504	0.85[CEU][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7694043	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1545328	BMPR1B	cis	parietal	SCAN
rs1545328	BMPR1B	cis	Heart Left Ventricle	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95908800-95915400	Weak transcription	A549	lung
2	chr4:95912600-95913600	Enhancers	Ovary	ovary
3	chr4:95912600-95916000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:95912600-95916600	Weak transcription	Fetal Kidney	kidney

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