Variant report

Variant	rs73109717
Chromosome Location	chr3:78739759-78739760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10049014	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10049102	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10428105	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11915494	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11915745	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11917512	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11918759	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11919682	0.81[ASN][1000 genomes]
rs11920344	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11925970	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927666	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928868	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12106862	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395784	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17016453	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17016466	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17303276	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17375110	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17375496	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17375739	0.84[ASN][1000 genomes]
rs2031051	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2118068	0.88[ASN][1000 genomes]
rs2271151	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28494803	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3732662	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3732663	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773224	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3773225	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3773226	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3773227	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773231	0.84[ASN][1000 genomes]
rs3773234	0.81[ASN][1000 genomes]
rs3773239	0.81[ASN][1000 genomes]
rs3773240	0.81[ASN][1000 genomes]
rs3773245	0.81[ASN][1000 genomes]
rs3821601	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3821602	0.81[ASN][1000 genomes]
rs3821603	0.81[ASN][1000 genomes]
rs4263256	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56372508	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58561177	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60568341	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60749216	0.93[ASN][1000 genomes]
rs61053911	0.80[ASN][1000 genomes]
rs67137735	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67347336	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67362360	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67498832	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769933	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787349	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6788434	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788511	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806079	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73109772	0.83[ASN][1000 genomes]
rs73109774	0.81[ASN][1000 genomes]
rs73850750	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7610500	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7610686	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7613490	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7616495	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7622194	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7624482	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653782	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs767182	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309810	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9309811	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9309814	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808950	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9818170	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9819398	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9823359	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9829907	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9831098	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9840004	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9840033	0.87[EUR][1000 genomes]
rs9880072	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9880316	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882811	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883582	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008156	chr3:78444137-78765884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78654200-78746600	Weak transcription	NHDF-Ad	bronchial
2	chr3:78667200-78751200	Weak transcription	Esophagus	oesophagus
3	chr3:78717800-78745200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:78717800-78748400	Weak transcription	Ovary	ovary
5	chr3:78719600-78753000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:78720000-78753200	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:78730400-78752600	Weak transcription	Fetal Stomach	stomach
8	chr3:78731600-78739800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:78733800-78744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:78733800-78746600	Weak transcription	Fetal Lung	lung
11	chr3:78733800-78752400	Weak transcription	Fetal Kidney	kidney
12	chr3:78733800-78778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:78734000-78740200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:78735200-78765600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:78737000-78740000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:78737400-78741200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:78739000-78741800	Weak transcription	HepG2	liver
18	chr3:78739400-78739800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:78739600-78740000	Enhancers	NH-A	brain
20	chr3:78739600-78740400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:78739600-78740400	Enhancers	Brain Germinal Matrix	brain
22	chr3:78739600-78740600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:78739600-78740600	Enhancers	Osteobl	bone

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