Variant report

Variant	rs9987289
Chromosome Location	chr8:9183358-9183359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr8:9183263-9183467	K562	blood:	n/a	n/a
2	MAX	chr8:9183278-9183478	NB4	blood:	n/a	chr8:9183425-9183434 chr8:9183421-9183436

Variant related genes	Relation type
ENSG00000254235	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10099512	1.00[CHB][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs10106829	1.00[ASN][1000 genomes]
rs11778774	1.00[ASN][1000 genomes]
rs11779870	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11781511	1.00[ASN][1000 genomes]
rs11990096	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13255273	0.86[ASN][1000 genomes]
rs13264007	1.00[ASN][1000 genomes]
rs13265179	1.00[ASN][1000 genomes]
rs13274716	1.00[ASN][1000 genomes]
rs13279173	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1461729	1.00[ASN][1000 genomes]
rs17660635	0.86[ASN][1000 genomes]
rs17661330	1.00[CHB][hapmap]
rs17715588	0.83[ASN][1000 genomes]
rs17716118	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2054345	1.00[ASN][1000 genomes]
rs2126259	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126260	1.00[ASN][1000 genomes]
rs2126261	1.00[CHB][hapmap]
rs2126263	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126264	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2169385	1.00[ASN][1000 genomes]
rs2169387	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28529330	0.86[ASN][1000 genomes]
rs330091	0.86[ASN][1000 genomes]
rs330092	1.00[CHB][hapmap]
rs34025891	1.00[ASN][1000 genomes]
rs34271262	1.00[ASN][1000 genomes]
rs34906420	1.00[ASN][1000 genomes]
rs35584813	0.86[ASN][1000 genomes]
rs35899262	1.00[ASN][1000 genomes]
rs4240624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332138	1.00[ASN][1000 genomes]
rs4841132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60191553	1.00[ASN][1000 genomes]
rs6601299	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984305	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6985493	1.00[ASN][1000 genomes]
rs6998846	0.86[ASN][1000 genomes]
rs7002551	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7004769	1.00[ASN][1000 genomes]
rs73535309	1.00[ASN][1000 genomes]
rs7357361	1.00[CHB][hapmap]
rs9772631	0.86[ASN][1000 genomes]
rs983308	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs983309	1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs983310	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs983311	0.86[ASN][1000 genomes]
rs9987280	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:9)

Disease	PMID	Source
LDL cholesterol	20686565	GWAS catalog
Metabolic syndrome (bivariate traits)	21386085	GWAS catalog
HDL cholesterol	24097068	GWAS catalog
C-reactive protein levels	21300955	GWAS catalog
HDL Cholesterol - Triglycerides (HDLC-TG)	21386085	GWAS catalog
Cholesterol, total	24097068	GWAS catalog
HDL cholesterol	20686565	GWAS catalog
Cholesterol, total	20686565	GWAS catalog
LDL cholesterol	24097068	GWAS catalog

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9178600-9193600	Weak transcription	Left Ventricle	heart
2	chr8:9178600-9194000	Weak transcription	Right Atrium	heart
3	chr8:9182400-9185800	Flanking Active TSS	Liver	Liver
4	chr8:9182600-9183400	Enhancers	Psoas Muscle	Psoas
5	chr8:9182600-9183600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr8:9182800-9183600	Enhancers	Skeletal Muscle Male	skeletal muscle

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