Variant report

Variant	rs468751
Chromosome Location	chr5:112244037-112244038
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	chr5:112243328..112246108-chr5:112252960..112255177,2	MCF-7	breast:
2	chr5:112243670..112246215-chr5:112250359..112252946,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1093611	0.86[ASN][1000 genomes]
rs149191	0.84[EUR][1000 genomes]
rs149193	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs153544	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153546	0.85[ASN][1000 genomes]
rs153548	0.85[ASN][1000 genomes]
rs153549	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs153550	0.86[ASN][1000 genomes]
rs153551	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153552	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs153556	0.87[EUR][1000 genomes]
rs153557	0.84[EUR][1000 genomes]
rs153561	0.84[EUR][1000 genomes]
rs153563	0.84[EUR][1000 genomes]
rs154344	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2545156	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2545170	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2546115	0.82[ASN][1000 genomes]
rs3317	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs351767	0.85[ASN][1000 genomes]
rs351768	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs351770	0.84[ASN][1000 genomes]
rs368575	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs373059	0.83[EUR][1000 genomes]
rs374613	0.82[EUR][1000 genomes]
rs382427	0.82[EUR][1000 genomes]
rs395858	0.83[EUR][1000 genomes]
rs410701	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs419155	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs448613	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs456531	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs459102	0.86[ASN][1000 genomes]
rs460137	0.87[EUR][1000 genomes]
rs468610	0.93[ASN][1000 genomes]
rs468854	0.94[ASN][1000 genomes]
rs469827	0.92[ASN][1000 genomes]
rs469886	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs495794	0.85[ASN][1000 genomes]
rs505382	0.84[EUR][1000 genomes]
rs514763	0.88[ASN][1000 genomes]
rs67293732	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs712663	0.85[ASN][1000 genomes]
rs712670	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7213	0.85[ASN][1000 genomes]
rs818426	0.94[EUR][1000 genomes]
rs818428	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs818429	0.86[ASN][1000 genomes]
rs818430	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs818782	0.85[EUR][1000 genomes]
rs818797	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs468751	REEP5	cis	Esophagus Muscularis	GTEx
rs468751	REEP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:112223000-112245200	Weak transcription	Colonic Mucosa	Colon
9	chr5:112223000-112245200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:112223000-112256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
12	chr5:112224800-112250600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:112225000-112251600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:112229600-112250000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:112229600-112256600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:112230200-112251600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:112232600-112250200	Weak transcription	Stomach Mucosa	stomach
18	chr5:112233600-112246600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:112234200-112249400	Weak transcription	Fetal Heart	heart
20	chr5:112234600-112246400	Weak transcription	HMEC	breast
21	chr5:112235200-112245200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:112236400-112245200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:112236400-112245600	Weak transcription	Esophagus	oesophagus
24	chr5:112237000-112244600	Weak transcription	NHDF-Ad	bronchial
25	chr5:112237200-112249400	Weak transcription	K562	blood
26	chr5:112237400-112254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:112238200-112245200	Weak transcription	Fetal Thymus	thymus
28	chr5:112238200-112249600	Weak transcription	Brain Germinal Matrix	brain
29	chr5:112238200-112251600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr5:112238400-112244800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:112238400-112251800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:112238400-112252800	Weak transcription	Small Intestine	intestine
33	chr5:112238400-112253800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:112238600-112244800	Weak transcription	NHLF	lung
35	chr5:112238600-112245200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:112238600-112245200	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:112238600-112245400	Weak transcription	A549	lung
38	chr5:112238600-112246400	Weak transcription	Aorta	Aorta
39	chr5:112238600-112248400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:112238800-112244800	Weak transcription	HUVEC	blood vessel
41	chr5:112238800-112245200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:112238800-112246200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:112239000-112249200	Weak transcription	Hela-S3	cervix
44	chr5:112241200-112244800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:112241200-112247000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr5:112241200-112250400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:112241400-112247000	Strong transcription	Osteobl	bone
48	chr5:112241400-112249200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr5:112241600-112247000	Strong transcription	Placenta	Placenta
50	chr5:112241800-112246600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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