Variant report

Variant	rs1445838
Chromosome Location	chr5:54048916-54048917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54044930..54047645-chr5:54048300..54051015,2	K562	blood:
2	chr5:54047842..54051825-chr5:54059537..54062884,3	K562	blood:
3	chr5:54048212..54050692-chr5:54052944..54054677,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10077227	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10077228	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10940420	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10940421	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11741898	0.98[ASN][1000 genomes]
rs12520102	0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.91[ASN][1000 genomes]
rs13180905	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445837	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445839	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867687	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35207106	0.91[ASN][1000 genomes]
rs4242043	0.91[ASN][1000 genomes]
rs4367251	0.90[ASN][1000 genomes]
rs4367252	0.91[ASN][1000 genomes]
rs4367253	0.91[ASN][1000 genomes]
rs4410612	0.92[ASN][1000 genomes]
rs4419552	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4487449	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4541609	0.90[ASN][1000 genomes]
rs4596333	0.91[ASN][1000 genomes]
rs4639171	0.91[ASN][1000 genomes]
rs4639172	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6872707	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881842	0.97[ASN][1000 genomes]
rs6899028	0.99[ASN][1000 genomes]
rs7701622	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7710924	0.85[CHB][hapmap];0.80[EUR][1000 genomes]
rs7735360	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7735378	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7736184	0.89[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs895329	0.91[ASN][1000 genomes]
rs9292068	0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1445838	PELO	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54040600-54050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:54040600-54052400	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:54041200-54051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:54041800-54052000	Weak transcription	Placenta	Placenta
5	chr5:54041800-54052200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:54042600-54053800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:54044800-54051800	Weak transcription	K562	blood
8	chr5:54044800-54056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:54047400-54049000	Weak transcription	Esophagus	oesophagus
10	chr5:54047600-54049600	Enhancers	Primary B cells from cord blood	blood
11	chr5:54047600-54049600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:54048400-54049000	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:54048600-54049000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:54048600-54049000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:54048600-54049200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:54048600-54049400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:54048600-54049400	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr5:54048600-54049400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:54048600-54049400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:54048600-54049400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:54048600-54049400	Enhancers	HSMM	muscle
22	chr5:54048600-54049400	Enhancers	HSMMtube	muscle
23	chr5:54048600-54049400	Enhancers	Osteobl	bone
24	chr5:54048600-54049600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr5:54048600-54049600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:54048600-54049600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:54048600-54049600	Enhancers	NHDF-Ad	bronchial
28	chr5:54048600-54050000	Flanking Active TSS	GM12878-XiMat	blood
29	chr5:54048600-54051000	Enhancers	NH-A	brain
30	chr5:54048600-54054600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:54048800-54049000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:54048800-54049000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:54048800-54049000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr5:54048800-54049200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr5:54048800-54049200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:54048800-54049200	Enhancers	Fetal Heart	heart
37	chr5:54048800-54049400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:54048800-54049400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:54048800-54049400	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr5:54048800-54050000	Enhancers	NHLF	lung

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