Variant report

Variant	rs7164883
Chromosome Location	chr15:73652174-73652175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11630367	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4489968	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56777763	0.94[ASN][1000 genomes]
rs60512978	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7172038	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7172796	1.00[CEU][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7172808	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7173389	0.81[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7174098	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74022964	0.82[AMR][1000 genomes]
rs8035896	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8038766	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8039168	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8040533	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv457202	chr15:73612377-73680301	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv569949	chr15:73612377-73680301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv524049	chr15:73612833-73680301	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Atrial fibrillation	22544366	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7164883	HOXB9	trans	cerebellum	SCAN
rs7164883	THAP10	cis	cerebellum	SCAN
rs7164883	ALG1	trans	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73644800-73655800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:73645000-73655400	Weak transcription	Fetal Brain Female	brain
3	chr15:73645400-73654800	Enhancers	Fetal Heart	heart
4	chr15:73646600-73653800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:73646800-73653600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr15:73646800-73653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:73646800-73654200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:73647000-73654000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:73647000-73654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:73648400-73653200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:73648400-73653600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:73650200-73652400	Enhancers	Duodenum Mucosa	Duodenum
13	chr15:73650200-73652800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:73650400-73652400	Enhancers	Right Atrium	heart
15	chr15:73650600-73653600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:73651200-73655600	Enhancers	Left Ventricle	heart
17	chr15:73651200-73659000	Weak transcription	Pancreas	Pancrea
18	chr15:73651400-73652600	Weak transcription	Ovary	ovary
19	chr15:73651600-73658600	Enhancers	Right Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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