Variant report

Variant	rs1478385
Chromosome Location	chr2:168221481-168221482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10177399	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10189334	0.80[EUR][1000 genomes]
rs10192896	0.81[EUR][1000 genomes]
rs10803822	0.80[EUR][1000 genomes]
rs10803824	0.89[EUR][1000 genomes]
rs10930268	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10930270	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10930271	0.82[ASN][1000 genomes]
rs12104569	0.83[EUR][1000 genomes]
rs12620530	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12692859	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12995201	0.90[EUR][1000 genomes]
rs1357605	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1357606	0.90[EUR][1000 genomes]
rs1382318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403895	0.90[EUR][1000 genomes]
rs1403897	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403898	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403899	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403900	0.85[EUR][1000 genomes]
rs1403901	0.85[EUR][1000 genomes]
rs1478384	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1523882	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1523883	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1523886	0.84[ASN][1000 genomes]
rs1523887	0.84[ASN][1000 genomes]
rs1523888	0.90[EUR][1000 genomes]
rs1540820	0.80[EUR][1000 genomes]
rs1540821	0.82[EUR][1000 genomes]
rs1568747	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1581484	0.85[EUR][1000 genomes]
rs1581485	0.85[EUR][1000 genomes]
rs1589728	0.83[EUR][1000 genomes]
rs1608519	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1608520	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16853282	0.81[CEU][hapmap]
rs16853285	0.81[CEU][hapmap]
rs16853305	0.81[CEU][hapmap]
rs16853309	0.81[CEU][hapmap]
rs16853331	0.81[CEU][hapmap]
rs1851758	0.88[EUR][1000 genomes]
rs1851759	0.85[EUR][1000 genomes]
rs1851760	0.85[EUR][1000 genomes]
rs1880171	0.84[ASN][1000 genomes]
rs1916744	0.82[ASN][1000 genomes]
rs1916746	0.85[EUR][1000 genomes]
rs1916748	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1916749	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1916750	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1916751	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1996949	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2030657	0.90[EUR][1000 genomes]
rs2103098	0.85[EUR][1000 genomes]
rs2140500	0.82[ASN][1000 genomes]
rs2140501	0.83[EUR][1000 genomes]
rs2177441	0.83[EUR][1000 genomes]
rs2177442	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2204278	0.82[ASN][1000 genomes]
rs2204280	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2222504	0.90[EUR][1000 genomes]
rs2250619	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617365	0.90[EUR][1000 genomes]
rs2617368	0.85[EUR][1000 genomes]
rs2617383	0.90[EUR][1000 genomes]
rs2617386	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2617388	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2617391	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2617393	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2617394	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2617398	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2617399	1.00[EUR][1000 genomes]
rs2617400	0.90[EUR][1000 genomes]
rs2689819	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2689820	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689823	0.85[EUR][1000 genomes]
rs2689825	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689826	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689827	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689828	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689829	0.90[EUR][1000 genomes]
rs2689832	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689833	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689840	0.81[EUR][1000 genomes]
rs2689842	0.85[EUR][1000 genomes]
rs2689843	0.84[ASN][1000 genomes]
rs2689845	0.84[ASN][1000 genomes]
rs2689846	0.84[ASN][1000 genomes]
rs2689847	0.84[ASN][1000 genomes]
rs2689848	0.84[ASN][1000 genomes]
rs2689855	0.82[ASN][1000 genomes]
rs2927600	0.83[EUR][1000 genomes]
rs2949009	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2949010	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3749004	0.81[CEU][hapmap]
rs4667532	0.86[EUR][1000 genomes]
rs4667949	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56875650	0.83[EUR][1000 genomes]
rs57979918	0.83[EUR][1000 genomes]
rs62194917	0.91[ASN][1000 genomes]
rs6722016	0.83[EUR][1000 genomes]
rs6725171	0.82[ASN][1000 genomes]
rs6726067	0.85[EUR][1000 genomes]
rs6729570	0.82[ASN][1000 genomes]
rs6731777	0.83[EUR][1000 genomes]
rs6754396	0.83[EUR][1000 genomes]
rs6756322	0.90[EUR][1000 genomes]
rs6756997	0.82[ASN][1000 genomes]
rs7576187	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581190	0.81[CEU][hapmap]
rs7593641	0.85[EUR][1000 genomes]
rs7594125	0.86[EUR][1000 genomes]
rs7607246	0.81[CEU][hapmap]
rs899185	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs922537	0.81[CEU][hapmap]
rs9287881	0.80[EUR][1000 genomes]
rs940314	0.90[EUR][1000 genomes]
rs940315	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9751663	0.83[EUR][1000 genomes]
rs9751666	0.85[EUR][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	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv431790	chr2:168217873-168273530	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168204600-168231600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:168221400-168222600	Enhancers	Fetal Brain Male	brain

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