Variant report

Variant	rs72904388
Chromosome Location	chr3:81642172-81642173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11918127	0.81[ASN][1000 genomes]
rs11920137	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11920270	0.81[ASN][1000 genomes]
rs11922101	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13319440	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1461607	0.87[ASN][1000 genomes]
rs17019144	0.81[ASN][1000 genomes]
rs1984974	0.89[ASN][1000 genomes]
rs2009766	0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2228389	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291593	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28415702	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28478451	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28702560	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28780766	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3821555	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55828412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037559	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57135543	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58104973	0.81[ASN][1000 genomes]
rs58339236	0.81[ASN][1000 genomes]
rs58977050	0.87[ASN][1000 genomes]
rs6762839	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72904318	0.87[ASN][1000 genomes]
rs72904375	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72904392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904402	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906226	0.81[ASN][1000 genomes]
rs7617859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7619190	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7629051	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9309873	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9810626	0.83[AMR][1000 genomes]
rs9813324	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9815184	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9820089	0.89[ASN][1000 genomes]
rs9822535	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9823236	0.81[ASN][1000 genomes]
rs9823805	0.81[ASN][1000 genomes]
rs9825828	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9828883	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9842657	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9854820	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9865935	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9868543	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9876575	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9878273	0.81[ASN][1000 genomes]
rs9879273	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934018	chr3:81413060-81655338	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv933756	chr3:81413060-81754738	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1003217	chr3:81435044-81752521	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv933259	chr3:81523854-81730617	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv999587	chr3:81534364-81707800	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv536603	chr3:81534364-81707800	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81603600-81726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:81608600-81644000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:81613600-81699200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:81614000-81693600	Weak transcription	Aorta	Aorta
5	chr3:81614400-81643600	Weak transcription	Primary T cells from cord blood	blood
6	chr3:81614400-81688800	Weak transcription	Right Ventricle	heart
7	chr3:81622600-81644600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:81622800-81643000	Weak transcription	Small Intestine	intestine
9	chr3:81624600-81644400	Weak transcription	Esophagus	oesophagus
10	chr3:81625200-81643400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:81625600-81644000	Strong transcription	Dnd41	blood
12	chr3:81626200-81671000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:81626400-81671800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:81627400-81666800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:81627400-81755000	Weak transcription	Primary B cells from cord blood	blood
16	chr3:81628600-81644000	Weak transcription	HMEC	breast
17	chr3:81630200-81644000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:81630400-81659400	Weak transcription	NHLF	lung
19	chr3:81631400-81655600	Weak transcription	Psoas Muscle	Psoas
20	chr3:81633000-81661400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:81635000-81700800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:81636600-81643400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:81639600-81642200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr3:81639600-81643200	Strong transcription	Adipose Nuclei	Adipose
25	chr3:81639600-81643200	Strong transcription	Liver	Liver
26	chr3:81639600-81643200	Strong transcription	Left Ventricle	heart
27	chr3:81639600-81643200	Strong transcription	HSMM	muscle
28	chr3:81640400-81644400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr3:81641200-81642200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr3:81641200-81642200	Genic enhancers	Ovary	ovary
31	chr3:81641400-81642200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:81641400-81642200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:81641400-81642200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:81641400-81642200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:81641400-81642200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:81641600-81642200	Strong transcription	GM12878-XiMat	blood
37	chr3:81641600-81646200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:81641600-81648600	Weak transcription	NHDF-Ad	bronchial
39	chr3:81641800-81653200	Weak transcription	HSMMtube	muscle
40	chr3:81641800-81654600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:81642000-81642400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:81642000-81643200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:81642000-81644000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:81642000-81652200	Weak transcription	Osteobl	bone
45	chr3:81642000-81665600	Weak transcription	HepG2	liver
46	chr3:81642000-81671200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:81642000-81753000	Weak transcription	HUVEC	blood vessel

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