Variant report

Variant	rs62227166
Chromosome Location	chr21:45452528-45452529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13047030	0.82[ASN][1000 genomes]
rs13047214	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17004630	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1971507	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1972272	0.81[EUR][1000 genomes]
rs2242951	0.83[EUR][1000 genomes]
rs2255016	0.82[ASN][1000 genomes]
rs2276532	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2299817	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2838469	0.87[ASN][1000 genomes]
rs28385580	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35524612	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4819375	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4819380	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62226688	0.86[EUR][1000 genomes]
rs62229740	0.96[EUR][1000 genomes]
rs7275722	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7276709	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8131617	0.81[EUR][1000 genomes]
rs9306169	0.89[ASN][1000 genomes]
rs965733	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62227166	PWP2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45433200-45452600	Weak transcription	Aorta	Aorta
2	chr21:45445200-45454400	Weak transcription	A549	lung
3	chr21:45445200-45454600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:45445200-45457800	Weak transcription	Small Intestine	intestine
5	chr21:45445200-45471400	Weak transcription	Stomach Mucosa	stomach
6	chr21:45445400-45454400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:45445400-45454600	Weak transcription	Colonic Mucosa	Colon
8	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr21:45445600-45452600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr21:45445800-45452800	Weak transcription	Fetal Lung	lung
11	chr21:45445800-45457800	Weak transcription	Gastric	stomach
12	chr21:45445800-45458200	Weak transcription	HSMMtube	muscle
13	chr21:45445800-45471400	Weak transcription	Right Atrium	heart
14	chr21:45446000-45452600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr21:45446000-45452600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr21:45446000-45452600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr21:45446000-45452600	Weak transcription	HSMM	muscle
18	chr21:45446000-45452600	Weak transcription	HUVEC	blood vessel
19	chr21:45446200-45452600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:45446200-45452600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr21:45446200-45452800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr21:45446200-45453000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr21:45446200-45453800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr21:45446200-45454200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:45446200-45454400	Weak transcription	Colon Smooth Muscle	Colon
26	chr21:45446200-45454600	Weak transcription	NHLF	lung
27	chr21:45446400-45452600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr21:45446400-45452600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:45446400-45452600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:45446400-45453400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:45446400-45454600	Weak transcription	Fetal Kidney	kidney
32	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
33	chr21:45446600-45452600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr21:45446600-45452600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr21:45446600-45452600	Weak transcription	NH-A	brain
36	chr21:45446600-45454600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr21:45446600-45479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr21:45446800-45452600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:45446800-45452600	Weak transcription	Placenta	Placenta
40	chr21:45446800-45453800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr21:45447000-45452600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr21:45447000-45454600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr21:45447400-45454400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr21:45447600-45452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:45447600-45454600	Weak transcription	Ovary	ovary
46	chr21:45447800-45452600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr21:45447800-45452600	Weak transcription	GM12878-XiMat	blood
48	chr21:45447800-45453600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:45448000-45453200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr21:45448400-45453200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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