Variant report

Variant	rs8126895
Chromosome Location	chr21:46609258-46609259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11088982	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12185823	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13047803	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1537121	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1556317	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2150439	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838797	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838803	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838807	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28782181	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs365791	0.88[ASN][1000 genomes]
rs372766	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs374778	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs377524	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3788180	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs381466	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs384876	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs386762	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs422720	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs434492	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs446158	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819030	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4819031	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6518214	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7281416	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7281757	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8126717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8128889	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8130224	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8133307	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8134789	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs983749	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9974232	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
12	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8126895	LOC642852	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
2	chr21:46604600-46615000	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:46604800-46610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:46604800-46610600	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:46604800-46611400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:46604800-46618200	Strong transcription	Hela-S3	cervix
7	chr21:46605200-46610800	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr21:46605200-46620000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:46605400-46610200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
10	chr21:46605600-46610600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr21:46605800-46610000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:46605800-46610000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:46605800-46610200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:46605800-46610200	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr21:46605800-46610800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:46605800-46610800	ZNF genes & repeats	Fetal Muscle Leg	muscle
17	chr21:46605800-46611000	ZNF genes & repeats	Fetal Lung	lung
18	chr21:46605800-46612800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:46605800-46613000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:46606000-46610600	Weak transcription	Aorta	Aorta
21	chr21:46606000-46610600	Weak transcription	Gastric	stomach
22	chr21:46606000-46611000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr21:46606000-46611200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr21:46606000-46612200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:46606000-46624400	Weak transcription	Esophagus	oesophagus
26	chr21:46606000-46630600	Weak transcription	Pancreas	Pancrea
27	chr21:46606200-46609800	ZNF genes & repeats	Liver	Liver
28	chr21:46606200-46610200	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr21:46606200-46610800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr21:46606200-46611000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
31	chr21:46606200-46611000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
32	chr21:46606400-46610600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
33	chr21:46606400-46610600	Weak transcription	Left Ventricle	heart
34	chr21:46606400-46619200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr21:46606600-46610400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:46606600-46610400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
37	chr21:46606600-46610600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
38	chr21:46606600-46610600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr21:46606600-46611000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr21:46606600-46622200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr21:46606800-46610600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr21:46606800-46624400	Weak transcription	Ovary	ovary
43	chr21:46606800-46624400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr21:46606800-46628400	Weak transcription	NH-A	brain
45	chr21:46606800-46640800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr21:46607000-46609400	Weak transcription	Fetal Brain Male	brain
47	chr21:46607000-46622400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr21:46607400-46609600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
49	chr21:46607400-46611400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr21:46607600-46611000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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