Variant report

Variant	rs62254597
Chromosome Location	chr3:78318438-78318439
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12631515	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12631676	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12632339	0.87[ASN][1000 genomes]
rs12635998	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12636011	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12636583	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12638712	0.86[ASN][1000 genomes]
rs12639191	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12639209	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13096355	0.87[ASN][1000 genomes]
rs1398328	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398329	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398330	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398331	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17777319	0.87[ASN][1000 genomes]
rs17777549	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17833836	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17834090	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1858425	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1917097	0.87[ASN][1000 genomes]
rs1917098	0.87[ASN][1000 genomes]
rs1917099	0.86[ASN][1000 genomes]
rs1917100	0.87[ASN][1000 genomes]
rs1917102	0.84[ASN][1000 genomes]
rs2140645	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2872375	0.87[ASN][1000 genomes]
rs35884433	0.87[ASN][1000 genomes]
rs36044834	0.87[ASN][1000 genomes]
rs58383444	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58971449	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62254596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62254599	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254600	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62254601	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62254603	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62254606	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62254607	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62254610	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62254611	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62254612	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62254613	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62254614	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62256248	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62256250	0.96[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs62256251	0.87[ASN][1000 genomes]
rs62256252	0.96[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs62256253	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs62256254	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62256256	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62256259	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67330234	0.87[ASN][1000 genomes]
rs6766104	0.86[ASN][1000 genomes]
rs6776916	0.87[ASN][1000 genomes]
rs6777743	0.87[ASN][1000 genomes]
rs6778976	0.86[ASN][1000 genomes]
rs6782991	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6783421	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs925504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9844417	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877017	chr3:77881397-78670654	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529995	chr3:78188643-78739698	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv460726	chr3:78295664-78455767	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv590733	chr3:78295664-78455767	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78317200-78318800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:78317600-78318600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:78317600-78318800	Enhancers	Placenta	Placenta
4	chr3:78317800-78318800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:78318000-78318600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:78318000-78318600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:78318000-78318800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:78318000-78319000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:78318200-78318600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:78318200-78318600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:78318200-78318600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:78318200-78318600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:78318200-78318800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:78318200-78319000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:78318400-78319000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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