Variant report

Variant	rs62298872
Chromosome Location	chr4:69987215-69987216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10025070	0.90[ASN][1000 genomes]
rs10033045	0.90[ASN][1000 genomes]
rs11931604	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11932983	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11933432	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11936412	0.81[ASN][1000 genomes]
rs11937195	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11945620	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11945705	0.90[ASN][1000 genomes]
rs11946976	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12499192	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12503622	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12506592	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12507173	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12507556	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12508596	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13136922	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1841052	0.93[ASN][1000 genomes]
rs1993546	0.81[ASN][1000 genomes]
rs2125307	0.97[ASN][1000 genomes]
rs28365062	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34545777	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34561399	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4259121	0.90[ASN][1000 genomes]
rs4343788	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4348159	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4418041	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4434329	0.90[ASN][1000 genomes]
rs4554146	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4694152	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4694550	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4694606	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4694669	0.82[EUR][1000 genomes]
rs55676022	0.85[ASN][1000 genomes]
rs55831171	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55905314	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56943005	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57468707	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58965335	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59314351	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59732068	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60276248	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62296919	0.90[ASN][1000 genomes]
rs62296937	0.81[EUR][1000 genomes]
rs62296941	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62296959	0.84[EUR][1000 genomes]
rs62298861	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62298898	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66698711	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72642938	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72642947	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72642961	0.90[ASN][1000 genomes]
rs7435335	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7680341	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9991142	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv594583	chr4:69928642-69988378	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv427683	chr4:69929701-70414172	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv522091	chr4:69932587-69988378	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv999858	chr4:69933262-70676525	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv1000261	chr4:69954600-70642254	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv537134	chr4:69954600-70642254	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv879380	chr4:69961912-70046930	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv879381	chr4:69972086-70046930	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv879382	chr4:69972086-70066719	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv1806087	chr4:69975196-70276308	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69981600-69990800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:69986400-69989800	Weak transcription	NHEK	skin
3	chr4:69987000-69988400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:69987200-69988200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:69987200-69988200	Weak transcription	Fetal Intestine Small	intestine

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