Variant report

Variant	rs2031051
Chromosome Location	chr3:78749616-78749617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10049014	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10049102	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10428105	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11915494	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11915745	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11917512	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11918759	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11919682	0.80[ASN][1000 genomes]
rs11920344	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11925970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11927666	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11928868	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12106862	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1395784	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17016453	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17016466	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17303276	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17375110	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17375496	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17375739	0.83[ASN][1000 genomes]
rs2118068	0.87[ASN][1000 genomes]
rs2271151	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28494803	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3732662	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3732663	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3773224	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3773225	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3773226	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3773227	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3773231	0.83[ASN][1000 genomes]
rs3821601	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4263256	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56372508	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58561177	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60568341	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60749216	0.92[ASN][1000 genomes]
rs67137735	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67347336	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67362360	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67498832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6769933	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6787349	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6788434	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6788511	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6806079	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73109717	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73109772	0.82[ASN][1000 genomes]
rs73850750	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7610500	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7610686	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7613490	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7616495	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7622194	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7624482	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7653782	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs767182	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9309810	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9309811	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9309814	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9808950	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9818170	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9819398	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9823359	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9829907	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9831098	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9840004	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9840033	0.87[EUR][1000 genomes]
rs9880072	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9880316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9882811	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9883582	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1842222	chr3:78744206-78778901	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78667200-78751200	Weak transcription	Esophagus	oesophagus
2	chr3:78719600-78753000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:78720000-78753200	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:78730400-78752600	Weak transcription	Fetal Stomach	stomach
5	chr3:78733800-78752400	Weak transcription	Fetal Kidney	kidney
6	chr3:78733800-78778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:78735200-78765600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:78740400-78773800	Weak transcription	Brain Germinal Matrix	brain
9	chr3:78740600-78756200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:78742600-78756400	Weak transcription	HepG2	liver
11	chr3:78747000-78777400	Weak transcription	Fetal Heart	heart
12	chr3:78748000-78752000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:78748000-78755800	Weak transcription	Fetal Lung	lung
14	chr3:78748200-78753400	Weak transcription	Brain Anterior Caudate	brain
15	chr3:78749000-78765800	Weak transcription	Ovary	ovary
16	chr3:78749600-78765600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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