Variant report

Variant	rs1952086
Chromosome Location	chr14:55683236-55683237
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10135891	1.00[GIH][hapmap]
rs10139912	0.88[ASN][1000 genomes]
rs10144869	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10483640	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10498474	0.82[YRI][hapmap]
rs11851023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11851945	0.81[ASN][1000 genomes]
rs12323804	0.94[ASN][1000 genomes]
rs13379420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17128159	0.81[GIH][hapmap]
rs17128230	0.85[YRI][hapmap]
rs17128262	0.87[ASW][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs17128275	0.81[ASN][1000 genomes]
rs17128277	0.81[ASN][1000 genomes]
rs17128292	0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs17128303	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17128323	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17128370	1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs1886784	0.87[ASW][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs2075598	0.88[CHD][hapmap];1.00[GIH][hapmap]
rs2274272	0.85[YRI][hapmap]
rs28408795	0.81[ASN][1000 genomes]
rs28883964	0.94[ASN][1000 genomes]
rs2985914	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3759666	0.87[ASW][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs4334208	0.91[ASN][1000 genomes]
rs55772085	0.89[AFR][1000 genomes]
rs55912862	0.88[ASN][1000 genomes]
rs56192604	0.81[ASN][1000 genomes]
rs57612384	0.94[ASN][1000 genomes]
rs59155162	0.94[ASN][1000 genomes]
rs60023093	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60204830	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60715972	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7141563	0.81[ASN][1000 genomes]
rs7141706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7142831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7145502	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7147172	0.94[ASN][1000 genomes]
rs7147666	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7153418	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7153651	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7153958	0.94[ASN][1000 genomes]
rs7154368	0.81[ASN][1000 genomes]
rs7155704	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155729	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155936	0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs7157585	0.81[ASN][1000 genomes]
rs7160411	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7160575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7160642	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7160753	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7161502	0.84[AMR][1000 genomes]
rs74050921	0.85[AFR][1000 genomes]
rs74050928	0.87[AFR][1000 genomes]
rs74050932	0.81[ASN][1000 genomes]
rs74050939	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs74050958	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74050963	0.86[ASN][1000 genomes]
rs8009060	0.81[ASN][1000 genomes]
rs8009181	0.82[CHD][hapmap]
rs8010751	0.81[ASN][1000 genomes]
rs8010791	0.81[ASN][1000 genomes]
rs8012397	0.82[CHD][hapmap]
rs8016444	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8016716	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8017821	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035158	chr14:55638386-55684228	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr14:55679800-55684800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:55679800-55685200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:55679800-55685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:55680200-55685600	Weak transcription	NHEK	skin
5	chr14:55680400-55685000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:55680400-55685000	Weak transcription	HMEC	breast

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