Variant report

Variant	rs58321500
Chromosome Location	chr8:99764426-99764427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10447977	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10955189	0.82[AMR][1000 genomes]
rs10955190	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11774463	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11778767	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780500	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12114834	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12541317	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12547297	0.85[ASN][1000 genomes]
rs12679734	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12680195	0.86[ASN][1000 genomes]
rs13269932	0.85[AMR][1000 genomes]
rs13275915	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13279438	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1476181	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2442012	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2442014	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2515214	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2922075	0.86[AMR][1000 genomes]
rs2922078	0.86[AMR][1000 genomes]
rs2922081	0.86[AMR][1000 genomes]
rs2922082	0.83[AMR][1000 genomes]
rs3019293	0.86[AMR][1000 genomes]
rs34281206	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34366206	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34855977	0.86[AMR][1000 genomes]
rs35536167	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35798019	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35804297	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35915594	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4131873	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4255105	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4279561	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4304299	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4323440	0.83[ASN][1000 genomes]
rs4413739	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4440607	0.87[AMR][1000 genomes]
rs4541872	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4549741	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4562286	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4612309	0.84[AMR][1000 genomes]
rs4734414	0.82[AMR][1000 genomes]
rs4735571	0.81[AMR][1000 genomes]
rs4735574	0.86[AMR][1000 genomes]
rs57034072	0.84[ASN][1000 genomes]
rs62532565	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62532577	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62532587	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72666694	0.86[ASN][1000 genomes]
rs7838239	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99739600-99776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:99741600-99794200	Weak transcription	Pancreas	Pancrea
3	chr8:99743400-99777200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:99746600-99789400	Weak transcription	Psoas Muscle	Psoas
5	chr8:99748600-99777200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:99754200-99777600	Weak transcription	Left Ventricle	heart
7	chr8:99756200-99776800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:99756600-99777200	Weak transcription	HMEC	breast
9	chr8:99756800-99776400	Weak transcription	Placenta	Placenta
10	chr8:99757400-99777600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:99757400-99777800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:99757400-99777800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:99757400-99778600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:99758400-99768800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:99758400-99772800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:99758400-99776600	Weak transcription	NHEK	skin
17	chr8:99758600-99765800	Weak transcription	A549	lung
18	chr8:99758600-99777000	Weak transcription	Fetal Lung	lung
19	chr8:99758600-99777000	Weak transcription	HSMM	muscle
20	chr8:99758600-99794200	Weak transcription	Lung	lung
21	chr8:99758800-99777000	Weak transcription	Adipose Nuclei	Adipose
22	chr8:99759200-99766000	Weak transcription	Ovary	ovary
23	chr8:99759200-99772600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:99759200-99774800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:99759200-99776000	Weak transcription	Liver	Liver
26	chr8:99759200-99777000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:99759200-99777600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:99759200-99777800	Weak transcription	Aorta	Aorta
29	chr8:99759200-99778200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:99759200-99778800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:99759200-99781600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:99759200-99794400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:99759400-99777200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:99759400-99778200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:99759400-99784400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:99759800-99793400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:99760000-99777200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:99760200-99764800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:99760200-99777000	Weak transcription	NHDF-Ad	bronchial
40	chr8:99760600-99766200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:99760600-99777000	Weak transcription	Dnd41	blood
42	chr8:99763800-99767200	Weak transcription	K562	blood
43	chr8:99763800-99771200	Weak transcription	Right Ventricle	heart
44	chr8:99763800-99777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:99763800-99794200	Weak transcription	NHLF	lung

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