Variant report

Variant	rs2838467
Chromosome Location	chr21:45436355-45436356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10854489	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1131999	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12627239	0.80[ASN][1000 genomes]
rs13050630	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2020947	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2020948	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2039272	0.80[ASN][1000 genomes]
rs2071152	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2071154	0.86[EUR][1000 genomes]
rs2156428	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2238704	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238705	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238706	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238707	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238708	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238709	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2238710	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242950	0.80[ASN][1000 genomes]
rs2243348	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2245372	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245380	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2245386	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245462	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245759	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2247400	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255716	0.88[ASN][1000 genomes]
rs2255828	0.84[ASN][1000 genomes]
rs2255922	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2256392	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2256441	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276530	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2277806	0.83[ASN][1000 genomes]
rs2299812	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299813	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299815	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2299816	0.88[EUR][1000 genomes]
rs2299818	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299820	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838466	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2838468	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838471	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838472	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838473	0.96[ASN][1000 genomes]
rs2838474	0.93[ASN][1000 genomes]
rs2838476	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838477	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838478	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838480	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838481	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838482	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838483	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838485	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838486	0.85[ASN][1000 genomes]
rs2838488	0.80[ASN][1000 genomes]
rs2850150	0.80[ASN][1000 genomes]
rs28859288	0.89[ASN][1000 genomes]
rs35610725	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3788097	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788098	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788101	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3788102	0.88[EUR][1000 genomes]
rs4818878	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819366	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819370	0.82[ASN][1000 genomes]
rs56384549	0.92[ASN][1000 genomes]
rs59675192	0.88[EUR][1000 genomes]
rs7277269	0.82[ASN][1000 genomes]
rs7279727	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7281270	0.80[ASN][1000 genomes]
rs7281768	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7281778	0.96[ASN][1000 genomes]
rs7282643	0.98[ASN][1000 genomes]
rs729882	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8126754	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8126958	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8129971	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8132918	0.82[ASN][1000 genomes]
rs8133422	0.93[ASN][1000 genomes]
rs8133610	0.82[ASN][1000 genomes]
rs915878	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9306169	0.88[EUR][1000 genomes]
rs9306171	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9306172	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9306174	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs965733	0.82[EUR][1000 genomes]
rs9974165	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9974315	0.93[ASN][1000 genomes]
rs9975708	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9975978	0.88[ASN][1000 genomes]
rs9977564	0.83[ASN][1000 genomes]
rs9978130	0.96[ASN][1000 genomes]
rs9981257	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9982663	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2838467	PWP2	Cis_1M	lymphoblastoid	RTeQTL
rs2838467	PWP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45433200-45452600	Weak transcription	Aorta	Aorta
2	chr21:45433600-45437600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:45433600-45438800	Enhancers	Primary B cells from peripheral blood	blood
4	chr21:45433600-45438800	Weak transcription	Lung	lung
5	chr21:45433600-45444800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:45433600-45444800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:45433800-45439000	Weak transcription	Fetal Intestine Small	intestine
8	chr21:45433800-45444800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr21:45433800-45448000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr21:45434000-45436600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:45434000-45436600	Enhancers	Brain Hippocampus Middle	brain
12	chr21:45434000-45437600	Weak transcription	Gastric	stomach
13	chr21:45434000-45437600	Weak transcription	Right Ventricle	heart
14	chr21:45434000-45437800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr21:45434000-45438800	Weak transcription	Fetal Muscle Leg	muscle
16	chr21:45434000-45439200	Enhancers	Liver	Liver
17	chr21:45434000-45441400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:45434000-45441400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:45434000-45444000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:45434000-45444600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:45434000-45444800	Weak transcription	Placenta	Placenta
22	chr21:45434200-45437200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr21:45434200-45437600	Enhancers	Primary B cells from cord blood	blood
24	chr21:45434200-45438600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:45434200-45439000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr21:45434200-45440400	Weak transcription	Brain Angular Gyrus	brain
27	chr21:45434200-45443400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr21:45434200-45448800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr21:45434200-45450800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr21:45434400-45436600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:45434400-45437600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:45434400-45440600	Weak transcription	Fetal Heart	heart
33	chr21:45434400-45441000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr21:45434400-45446800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr21:45434400-45451000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr21:45434600-45438800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr21:45434600-45439200	Weak transcription	Right Atrium	heart
38	chr21:45434600-45444800	Weak transcription	Esophagus	oesophagus
39	chr21:45434800-45436800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr21:45434800-45436800	Weak transcription	A549	lung
41	chr21:45434800-45437200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr21:45434800-45437600	Weak transcription	Pancreas	Pancrea
43	chr21:45434800-45437600	Weak transcription	Stomach Mucosa	stomach
44	chr21:45434800-45438400	Weak transcription	Left Ventricle	heart
45	chr21:45434800-45438600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr21:45434800-45438600	Weak transcription	Spleen	Spleen
47	chr21:45434800-45438800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr21:45434800-45440200	Enhancers	Dnd41	blood
49	chr21:45434800-45440400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr21:45434800-45440600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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