Variant report

Variant	rs11918583
Chromosome Location	chr3:53806023-53806024
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	chr3:53797911..53799633-chr3:53804369..53806585,2	K562	blood:
2	chr3:53804033..53806635-chr3:53807330..53809774,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11719163	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1573818	1.00[CHD][hapmap]
rs28365115	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28434705	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34343863	0.80[EUR][1000 genomes]
rs3733070	0.88[EUR][1000 genomes]
rs3774558	1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs3774567	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774570	1.00[CEU][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3774577	0.96[CEU][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3774580	1.00[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3821860	0.96[CEU][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes]
rs3821866	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846215	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41276449	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384446	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776947	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6797014	0.95[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs714786	1.00[CEU][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9311514	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers 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 target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11918583	ACTR8	cis	parietal	SCAN
rs11918583	RBM5	cis	parietal	SCAN
rs11918583	NPRL2	cis	parietal	SCAN
rs11918583	PDE12	cis	parietal	SCAN
rs11918583	PHF7	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53773000-53807600	Strong transcription	Fetal Intestine Large	intestine
2	chr3:53774800-53807200	Strong transcription	Fetal Intestine Small	intestine
3	chr3:53778600-53806400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:53779000-53806400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:53780400-53807000	Weak transcription	Fetal Brain Female	brain
6	chr3:53781800-53807400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:53785000-53811200	Weak transcription	Spleen	Spleen
8	chr3:53785800-53806600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:53786000-53808200	Weak transcription	Liver	Liver
10	chr3:53788800-53807000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:53789800-53814600	Weak transcription	Brain Substantia Nigra	brain
12	chr3:53796400-53806800	Weak transcription	Brain Angular Gyrus	brain
13	chr3:53796600-53807000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:53796800-53808000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:53798000-53807400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:53798800-53807400	Weak transcription	Fetal Brain Male	brain
17	chr3:53802000-53807400	Strong transcription	Fetal Lung	lung
18	chr3:53802200-53807200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:53802400-53807000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:53802400-53818200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:53803000-53807400	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:53803400-53808200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:53803600-53807000	Weak transcription	Fetal Thymus	thymus
24	chr3:53803600-53807400	Weak transcription	Lung	lung
25	chr3:53803800-53807400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:53803800-53808000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:53804200-53807000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:53805000-53810200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr3:53805200-53807400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:53805200-53807400	Weak transcription	Pancreas	Pancrea
31	chr3:53805800-53806400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:53806000-53807800	Enhancers	GM12878-XiMat	blood

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