Variant report

Variant	rs372228
Chromosome Location	chr15:93138629-93138630
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11552662	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17523778	1.00[JPT][hapmap]
rs176235	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1982175	1.00[JPT][hapmap]
rs285702	0.81[CEU][hapmap];0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs285704	0.83[CHB][hapmap];0.86[ASN][1000 genomes]
rs285707	0.91[CHB][hapmap]
rs422472	0.91[CEU][hapmap];0.84[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs426746	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs432364	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs8030062	1.00[JPT][hapmap]
rs8032832	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs840059	0.83[CHB][hapmap];0.86[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	nsv948621	chr15:92688981-93158095	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
4	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
5	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs372228	RP11-386M24.3	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93128400-93152200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93132200-93139000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:93135200-93139200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:93136000-93139800	Weak transcription	Fetal Heart	heart
5	chr15:93136800-93141400	Weak transcription	Lung	lung
6	chr15:93138400-93138800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:93138400-93140600	Enhancers	Left Ventricle	heart
8	chr15:93138400-93143400	Enhancers	HSMMtube	muscle
9	chr15:93138600-93138800	Enhancers	Fetal Lung	lung
10	chr15:93138600-93139000	Weak transcription	Right Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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