Variant report

Variant	rs17342904
Chromosome Location	chr3:23287141-23287142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23284952..23287695-chr3:23289326..23291059,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1054048	0.88[ASN][1000 genomes]
rs17405137	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs28441035	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28617316	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28619078	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4327331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57909730	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58033276	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6550742	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6774587	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6774590	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73033541	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73035699	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73037704	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73037723	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73037748	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73039804	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73050286	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73050291	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9817417	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9817740	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9822814	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9832445	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9870844	0.89[EUR][1000 genomes];0.90[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	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1014701	chr3:23257658-23416094	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv589947	chr3:23277838-23403943	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv589948	chr3:23287141-23390221	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17342904	EFHB	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23274800-23298200	Weak transcription	Aorta	Aorta
2	chr3:23278600-23289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:23280200-23291400	Weak transcription	Psoas Muscle	Psoas
4	chr3:23280400-23290600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:23281400-23298200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:23282000-23290200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:23282200-23289000	Weak transcription	Adipose Nuclei	Adipose
8	chr3:23282200-23294600	Weak transcription	A549	lung
9	chr3:23283200-23296000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:23283600-23302200	Weak transcription	Left Ventricle	heart
11	chr3:23283800-23292000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:23285000-23290000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:23285000-23292400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:23286400-23289600	Weak transcription	Brain Angular Gyrus	brain
15	chr3:23286600-23289000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:23286600-23289600	Weak transcription	Brain Substantia Nigra	brain
17	chr3:23286800-23289400	Weak transcription	Brain Anterior Caudate	brain
18	chr3:23286800-23289600	Weak transcription	Brain Hippocampus Middle	brain

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