Variant report

Variant	rs1971507
Chromosome Location	chr21:45436745-45436746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13047214	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17004630	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2242951	0.86[AMR][1000 genomes]
rs2276532	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2299817	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2838469	0.88[ASN][1000 genomes]
rs28385580	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35524612	0.90[AMR][1000 genomes]
rs4819375	0.84[AMR][1000 genomes]
rs4819380	0.84[AMR][1000 genomes]
rs62226688	0.86[AMR][1000 genomes]
rs62227166	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62229740	0.89[EUR][1000 genomes]
rs7275722	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7276709	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9306169	0.86[ASN][1000 genomes]
rs965733	0.88[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
rs1971507	PWP2	Cis_1M	lymphoblastoid	RTeQTL
rs1971507	PWP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:99 , 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	chr21:45434000-45437600	Weak transcription	Gastric	stomach
11	chr21:45434000-45437600	Weak transcription	Right Ventricle	heart
12	chr21:45434000-45437800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr21:45434000-45438800	Weak transcription	Fetal Muscle Leg	muscle
14	chr21:45434000-45439200	Enhancers	Liver	Liver
15	chr21:45434000-45441400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:45434000-45441400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr21:45434000-45444000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:45434000-45444600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:45434000-45444800	Weak transcription	Placenta	Placenta
20	chr21:45434200-45437200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr21:45434200-45437600	Enhancers	Primary B cells from cord blood	blood
22	chr21:45434200-45438600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:45434200-45439000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr21:45434200-45440400	Weak transcription	Brain Angular Gyrus	brain
25	chr21:45434200-45443400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr21:45434200-45448800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr21:45434200-45450800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr21:45434400-45437600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:45434400-45440600	Weak transcription	Fetal Heart	heart
30	chr21:45434400-45441000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:45434400-45446800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr21:45434400-45451000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr21:45434600-45438800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr21:45434600-45439200	Weak transcription	Right Atrium	heart
35	chr21:45434600-45444800	Weak transcription	Esophagus	oesophagus
36	chr21:45434800-45436800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr21:45434800-45436800	Weak transcription	A549	lung
38	chr21:45434800-45437200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr21:45434800-45437600	Weak transcription	Pancreas	Pancrea
40	chr21:45434800-45437600	Weak transcription	Stomach Mucosa	stomach
41	chr21:45434800-45438400	Weak transcription	Left Ventricle	heart
42	chr21:45434800-45438600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr21:45434800-45438600	Weak transcription	Spleen	Spleen
44	chr21:45434800-45438800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr21:45434800-45440200	Enhancers	Dnd41	blood
46	chr21:45434800-45440400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr21:45434800-45440600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr21:45434800-45440600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr21:45434800-45440600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr21:45434800-45441400	Weak transcription	Rectal Mucosa Donor 29	rectum

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