Variant report

Variant	rs712666
Chromosome Location	chr5:112227939-112227940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1069061	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1093611	0.94[EUR][1000 genomes]
rs1093677	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151976	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs151977	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs151978	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs153545	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs153548	0.89[EUR][1000 genomes]
rs153550	0.89[EUR][1000 genomes]
rs153558	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs153562	0.85[AMR][1000 genomes]
rs173466	0.84[AMR][1000 genomes]
rs193527	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2545166	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2545167	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2909904	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs351767	0.83[EUR][1000 genomes]
rs351769	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs351770	0.92[EUR][1000 genomes]
rs35726351	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs372492	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs380144	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs382260	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs386830	0.88[ASN][1000 genomes]
rs397768	0.85[ASN][1000 genomes]
rs419632	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs429427	0.91[ASN][1000 genomes]
rs430665	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs431287	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs433429	0.88[ASN][1000 genomes]
rs434090	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs438252	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs439456	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs446567	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs454968	0.81[EUR][1000 genomes]
rs455412	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs455469	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs456313	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs458451	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs459102	0.97[EUR][1000 genomes]
rs460301	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs460832	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs461424	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs461866	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs463229	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs465454	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs465899	0.84[ASN][1000 genomes]
rs466443	0.87[ASN][1000 genomes]
rs468101	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs468610	0.90[EUR][1000 genomes]
rs468783	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs468854	0.91[EUR][1000 genomes]
rs469663	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs469727	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs469760	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs469827	0.91[EUR][1000 genomes]
rs481789	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs495794	0.85[EUR][1000 genomes]
rs497844	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs514763	0.85[EUR][1000 genomes]
rs519397	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs565453	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs565603	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs580237	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs698405	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs712662	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs712663	0.94[EUR][1000 genomes]
rs712664	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs712665	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs712668	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs712671	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7213	0.88[EUR][1000 genomes]
rs818423	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs818424	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs818425	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs818426	0.88[ASN][1000 genomes]
rs818427	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs818429	0.97[EUR][1000 genomes]
rs864682	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9011	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv1029595	chr5:112197662-112242375	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv968976	chr5:112227463-112229210	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs712666	REEP5	cis	Esophagus Muscularis	GTEx
rs712666	SRP19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
3	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:112210800-112232400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112213200-112229400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:112214200-112232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:112214800-112234800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:112215800-112240400	Strong transcription	Primary B cells from cord blood	blood
15	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:112219800-112232200	Strong transcription	Fetal Intestine Small	intestine
17	chr5:112221400-112237800	Weak transcription	Small Intestine	intestine
18	chr5:112221800-112231400	Weak transcription	Psoas Muscle	Psoas
19	chr5:112221800-112231800	Weak transcription	Stomach Mucosa	stomach
20	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:112222000-112231400	Weak transcription	Hela-S3	cervix
22	chr5:112222000-112233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:112222200-112229200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:112222200-112231200	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:112222800-112229200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:112222800-112229600	Weak transcription	Fetal Heart	heart
28	chr5:112222800-112231600	Weak transcription	Fetal Kidney	kidney
29	chr5:112222800-112239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:112223000-112228000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:112223000-112228000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:112223000-112228000	Weak transcription	NHLF	lung
33	chr5:112223000-112228200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr5:112223000-112228200	Weak transcription	Lung	lung
35	chr5:112223000-112229200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:112223000-112229200	Weak transcription	Brain Angular Gyrus	brain
37	chr5:112223000-112229200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:112223000-112231000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:112223000-112231200	Weak transcription	Brain Substantia Nigra	brain
40	chr5:112223000-112231200	Weak transcription	HUVEC	blood vessel
41	chr5:112223000-112231400	Weak transcription	HSMMtube	muscle
42	chr5:112223000-112233600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:112223000-112233800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr5:112223000-112234200	Weak transcription	Aorta	Aorta
45	chr5:112223000-112234400	Weak transcription	Ovary	ovary
46	chr5:112223000-112235800	Weak transcription	K562	blood
47	chr5:112223000-112240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:112223000-112243000	Weak transcription	Right Ventricle	heart
49	chr5:112223000-112245200	Weak transcription	Colonic Mucosa	Colon
50	chr5:112223000-112245200	Weak transcription	Rectal Smooth Muscle	rectum

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