Variant report

Variant	rs805433
Chromosome Location	chr2:54062802-54062803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10171954	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10188142	0.80[ASN][1000 genomes]
rs10192626	0.82[ASN][1000 genomes]
rs10203095	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10490471	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13414216	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13417926	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13432632	0.82[EUR][1000 genomes]
rs2111623	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2160931	0.83[EUR][1000 genomes]
rs2357693	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2542574	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2542576	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2542579	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2542584	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2542585	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2542588	0.88[ASN][1000 genomes]
rs2542593	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2692515	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2692518	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2692531	0.84[ASN][1000 genomes]
rs2692532	0.85[ASN][1000 genomes]
rs2692536	0.85[ASN][1000 genomes]
rs2909263	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2949811	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2949812	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3821081	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4413193	0.81[EUR][1000 genomes]
rs4671529	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4671583	0.82[ASN][1000 genomes]
rs6708095	0.83[EUR][1000 genomes]
rs6738369	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs698854	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs698858	0.82[EUR][1000 genomes]
rs718872	0.83[EUR][1000 genomes]
rs7572776	0.80[ASN][1000 genomes]
rs7573991	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7596349	0.83[EUR][1000 genomes]
rs7601692	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs805322	0.92[EUR][1000 genomes]
rs805359	0.90[EUR][1000 genomes]
rs805366	0.82[EUR][1000 genomes]
rs805374	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs805375	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs805379	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs805380	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs805391	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs805392	0.89[EUR][1000 genomes]
rs805393	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805402	0.90[EUR][1000 genomes]
rs805405	0.87[EUR][1000 genomes]
rs805410	0.89[EUR][1000 genomes]
rs805421	0.86[EUR][1000 genomes]
rs805423	0.91[EUR][1000 genomes]
rs805424	0.92[EUR][1000 genomes]
rs805430	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs805436	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805438	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805439	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805441	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805450	0.83[EUR][1000 genomes]
rs805453	0.82[EUR][1000 genomes]
rs809280	0.90[EUR][1000 genomes]
rs918207	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805433	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54025800-54085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:54030400-54063000	Weak transcription	Esophagus	oesophagus
3	chr2:54046600-54080200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:54046600-54080200	Weak transcription	NHDF-Ad	bronchial
5	chr2:54046800-54070800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:54046800-54080400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:54047000-54080200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:54047000-54080200	Weak transcription	A549	lung
9	chr2:54047000-54080400	Weak transcription	Gastric	stomach
10	chr2:54047000-54080400	Weak transcription	Pancreas	Pancrea
11	chr2:54047000-54080800	Weak transcription	Aorta	Aorta
12	chr2:54047200-54063000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:54047200-54067600	Weak transcription	HSMM	muscle
14	chr2:54047200-54070800	Weak transcription	Placenta	Placenta
15	chr2:54047200-54077000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:54047200-54080000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:54047200-54080200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:54047200-54080200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:54047200-54080200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:54047200-54080400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:54047200-54080400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:54047200-54080800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:54047600-54080400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:54047600-54080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:54047800-54064200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:54048200-54065000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:54050200-54080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:54050400-54080200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:54050600-54080200	Weak transcription	Fetal Stomach	stomach
30	chr2:54051000-54080000	Weak transcription	Osteobl	bone
31	chr2:54054000-54066400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:54054000-54080400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:54054400-54063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:54054400-54080400	Weak transcription	NHLF	lung
35	chr2:54054800-54068400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:54055000-54075000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:54055200-54063200	Weak transcription	Lung	lung
38	chr2:54055200-54075000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:54055200-54080400	Weak transcription	Ovary	ovary
40	chr2:54055200-54081000	Weak transcription	Psoas Muscle	Psoas
41	chr2:54055400-54069200	Weak transcription	Fetal Brain Male	brain
42	chr2:54055400-54076400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:54055400-54080000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:54056200-54080200	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:54056400-54066800	Weak transcription	Fetal Intestine Small	intestine
46	chr2:54056800-54080200	Weak transcription	Brain Substantia Nigra	brain
47	chr2:54057000-54063000	Weak transcription	Brain Anterior Caudate	brain
48	chr2:54057000-54063000	Weak transcription	Brain Germinal Matrix	brain
49	chr2:54057200-54064200	Weak transcription	Liver	Liver
50	chr2:54057200-54064400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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