Variant report

Variant	rs2106977
Chromosome Location	chr5:128199920-128199921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10058979	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058982	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035407	0.84[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520015	0.98[ASN][1000 genomes]
rs1118881	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421887	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1422458	0.81[EUR][1000 genomes]
rs1496348	0.84[EUR][1000 genomes]
rs1988891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2012809	0.84[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079100	0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2259002	0.86[JPT][hapmap]
rs2310809	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2522379	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2522380	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2522382	0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2522384	0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2522386	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2545018	0.89[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2545019	0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2545020	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2545021	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2545023	0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2577464	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2577466	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2577467	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2577469	0.89[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34217034	0.98[ASN][1000 genomes]
rs55721000	0.98[ASN][1000 genomes]
rs55729238	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55745082	0.98[ASN][1000 genomes]
rs55936379	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56105026	0.94[ASN][1000 genomes]
rs56285759	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6897985	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72795284	0.98[ASN][1000 genomes]
rs72795288	0.98[ASN][1000 genomes]
rs72795289	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72795290	0.98[ASN][1000 genomes]
rs72795292	0.98[ASN][1000 genomes]
rs72795293	0.98[ASN][1000 genomes]
rs72795295	0.98[ASN][1000 genomes]
rs72795296	0.98[ASN][1000 genomes]
rs72795297	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72795300	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72795301	0.98[ASN][1000 genomes]
rs72795302	0.98[ASN][1000 genomes]
rs72797158	0.98[ASN][1000 genomes]
rs72797159	0.98[ASN][1000 genomes]
rs72797161	0.98[ASN][1000 genomes]
rs72797166	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72797172	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72797173	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72797175	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72797176	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72797178	0.98[ASN][1000 genomes]
rs72797183	0.96[ASN][1000 genomes]
rs72797186	0.98[ASN][1000 genomes]
rs7700634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701236	0.98[ASN][1000 genomes]
rs7714784	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7719508	0.98[ASN][1000 genomes]
rs9327495	0.82[EUR][1000 genomes]
rs976784	0.84[EUR][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	nsv599699	chr5:128172808-128259451	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv462443	chr5:128172808-128298437	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv599700	chr5:128172808-128298437	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2106977	SLC12A2	cis	cerebellum	SCAN
rs2106977	SLC27A6	cis	Heart Left Ventricle	GTEx
rs2106977	AFF4	cis	parietal	SCAN
rs2106977	C5orf48	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128194200-128205600	Weak transcription	Fetal Heart	heart
2	chr5:128199800-128200000	Enhancers	Fetal Stomach	stomach

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