Variant report

Variant	rs242581
Chromosome Location	chr14:56721596-56721597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10132757	0.88[ASN][1000 genomes]
rs10152004	0.91[JPT][hapmap]
rs1023120	0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs1028973	0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs1152464	0.91[JPT][hapmap]
rs1152466	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1152478	0.94[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes]
rs1152479	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs1188693	0.82[CHB][hapmap]
rs12589133	0.99[ASN][1000 genomes]
rs12589933	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1382974	0.91[JPT][hapmap]
rs1382977	0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs17091112	0.92[JPT][hapmap]
rs17091123	0.91[JPT][hapmap]
rs17091196	0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2228708	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2297610	0.83[CHB][hapmap]
rs242582	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs242584	0.86[YRI][hapmap]
rs28662163	0.87[ASN][1000 genomes]
rs3783659	0.92[JPT][hapmap]
rs385141	0.95[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3898605	0.92[JPT][hapmap]
rs4636823	0.91[JPT][hapmap]
rs61311029	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6573085	1.00[JPT][hapmap]
rs7141484	0.91[JPT][hapmap]
rs7141949	1.00[JPT][hapmap]
rs7143560	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7152487	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7161103	0.92[JPT][hapmap]
rs7161274	0.92[JPT][hapmap];0.87[YRI][hapmap]
rs754314	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8009804	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8011852	0.92[JPT][hapmap]
rs8014574	1.00[JPT][hapmap];0.92[ASN][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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs242581	PELI2	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56693200-56724400	Weak transcription	Gastric	stomach
2	chr14:56694000-56723000	Weak transcription	Lung	lung
3	chr14:56711200-56724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:56711600-56724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:56715800-56723200	Weak transcription	Fetal Brain Female	brain
6	chr14:56716600-56737800	Weak transcription	Aorta	Aorta
7	chr14:56717800-56722000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:56717800-56724200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:56717800-56737800	Weak transcription	Thymus	Thymus
10	chr14:56717800-56749600	Weak transcription	Fetal Thymus	thymus
11	chr14:56717800-56765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:56718200-56724400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:56718400-56722800	Weak transcription	Pancreas	Pancrea
14	chr14:56718400-56723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:56718400-56755800	Weak transcription	Ovary	ovary
16	chr14:56718600-56735200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:56718800-56751400	Weak transcription	Primary B cells from cord blood	blood
18	chr14:56719000-56723600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:56719400-56723200	Weak transcription	Dnd41	blood

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