Variant report

Variant	rs2617386
Chromosome Location	chr2:168235344-168235345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10177399	0.81[EUR][1000 genomes]
rs10189334	0.80[EUR][1000 genomes]
rs10192896	0.81[EUR][1000 genomes]
rs10198766	0.83[ASN][1000 genomes]
rs10803822	0.80[EUR][1000 genomes]
rs10803824	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10803825	0.86[ASN][1000 genomes]
rs10930268	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930270	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12104569	0.83[EUR][1000 genomes]
rs12620530	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12692859	1.00[EUR][1000 genomes]
rs12995201	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1357600	0.83[ASN][1000 genomes]
rs1357601	0.83[ASN][1000 genomes]
rs1357605	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1357606	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1357607	0.88[ASN][1000 genomes]
rs1382318	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403891	0.86[ASN][1000 genomes]
rs1403892	0.86[ASN][1000 genomes]
rs1403895	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1403897	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403898	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403899	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403900	0.85[EUR][1000 genomes]
rs1403901	0.85[EUR][1000 genomes]
rs1403903	0.88[ASN][1000 genomes]
rs1478384	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1478385	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1523881	0.83[ASN][1000 genomes]
rs1523882	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1523883	0.90[EUR][1000 genomes]
rs1523888	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1523889	0.86[ASN][1000 genomes]
rs1540820	0.80[EUR][1000 genomes]
rs1540821	0.82[EUR][1000 genomes]
rs1568747	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1581484	0.85[EUR][1000 genomes]
rs1581485	0.85[EUR][1000 genomes]
rs1589728	0.83[EUR][1000 genomes]
rs1608519	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608520	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851758	0.88[EUR][1000 genomes]
rs1851759	0.85[EUR][1000 genomes]
rs1851760	0.85[EUR][1000 genomes]
rs1916745	0.83[ASN][1000 genomes]
rs1916746	0.85[EUR][1000 genomes]
rs1916748	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916749	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916750	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916751	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996949	1.00[EUR][1000 genomes]
rs2030657	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2091100	0.86[ASN][1000 genomes]
rs2103098	0.85[EUR][1000 genomes]
rs2140499	0.83[ASN][1000 genomes]
rs2140501	0.83[EUR][1000 genomes]
rs2177441	0.83[EUR][1000 genomes]
rs2177442	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2204280	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2222504	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250619	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2263240	0.86[ASN][1000 genomes]
rs2617365	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2617368	0.85[EUR][1000 genomes]
rs2617379	0.86[ASN][1000 genomes]
rs2617380	0.86[ASN][1000 genomes]
rs2617381	0.86[ASN][1000 genomes]
rs2617383	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2617388	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617391	1.00[EUR][1000 genomes]
rs2617393	1.00[EUR][1000 genomes]
rs2617394	1.00[EUR][1000 genomes]
rs2617398	1.00[EUR][1000 genomes]
rs2617399	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2617400	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2689819	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689820	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689823	0.85[EUR][1000 genomes]
rs2689825	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2689826	1.00[EUR][1000 genomes]
rs2689827	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2689828	1.00[EUR][1000 genomes]
rs2689829	0.90[EUR][1000 genomes]
rs2689832	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689833	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689840	0.81[EUR][1000 genomes]
rs2689842	0.85[EUR][1000 genomes]
rs2689849	0.88[ASN][1000 genomes]
rs2689850	0.88[ASN][1000 genomes]
rs2689851	0.88[ASN][1000 genomes]
rs2689853	0.86[ASN][1000 genomes]
rs2689854	0.86[ASN][1000 genomes]
rs2927600	0.83[EUR][1000 genomes]
rs2927602	0.86[ASN][1000 genomes]
rs2949009	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2949010	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667532	0.86[EUR][1000 genomes]
rs4667949	1.00[EUR][1000 genomes]
rs56875650	0.83[EUR][1000 genomes]
rs57979918	0.83[EUR][1000 genomes]
rs6722016	0.83[EUR][1000 genomes]
rs6726067	0.85[EUR][1000 genomes]
rs6731777	0.83[EUR][1000 genomes]
rs6754396	0.83[EUR][1000 genomes]
rs6756322	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7576187	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7593641	0.85[EUR][1000 genomes]
rs7594125	0.86[EUR][1000 genomes]
rs899185	1.00[EUR][1000 genomes]
rs9287881	0.80[EUR][1000 genomes]
rs940314	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs940315	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9751663	0.83[EUR][1000 genomes]
rs9751666	0.85[EUR][1000 genomes]
rs998015	0.88[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	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168232600-168237400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:168233000-168236200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:168233000-168236400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:168233000-168237200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:168233000-168238000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:168235000-168236400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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