Variant report

Variant	rs57616389
Chromosome Location	chr7:102593073-102593074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102583146..102586073-chr7:102591265..102594000,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10257543	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10273725	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10435335	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10499952	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1057066	0.80[AMR][1000 genomes]
rs1100044	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11543736	0.91[EUR][1000 genomes]
rs11970869	0.95[EUR][1000 genomes]
rs11972019	0.95[EUR][1000 genomes]
rs11972644	0.95[EUR][1000 genomes]
rs11973870	0.92[EUR][1000 genomes]
rs11978670	0.95[EUR][1000 genomes]
rs11978768	0.95[EUR][1000 genomes]
rs11978799	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11980643	0.88[EUR][1000 genomes]
rs11983456	0.92[EUR][1000 genomes]
rs11983521	0.92[EUR][1000 genomes]
rs12056296	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12532495	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533386	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12540384	0.95[EUR][1000 genomes]
rs12666764	0.92[EUR][1000 genomes]
rs12667218	0.92[EUR][1000 genomes]
rs12671803	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13242493	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17136137	0.95[EUR][1000 genomes]
rs2009503	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2159022	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2190673	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2228686	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2411056	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2411059	0.99[EUR][1000 genomes]
rs35479298	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779029	0.92[EUR][1000 genomes]
rs41501847	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4296965	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56894117	0.92[EUR][1000 genomes]
rs56921864	0.95[EUR][1000 genomes]
rs57350619	0.92[EUR][1000 genomes]
rs57368671	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57545514	0.95[EUR][1000 genomes]
rs57776797	0.92[EUR][1000 genomes]
rs58191643	0.95[EUR][1000 genomes]
rs58680618	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58814323	0.80[EUR][1000 genomes]
rs59278165	0.95[EUR][1000 genomes]
rs60524601	0.92[EUR][1000 genomes]
rs60599650	0.92[EUR][1000 genomes]
rs61679881	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6465877	0.95[EUR][1000 genomes]
rs6465878	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6465879	0.94[EUR][1000 genomes]
rs6465882	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6465885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6942855	0.95[EUR][1000 genomes]
rs6945369	0.92[EUR][1000 genomes]
rs6947403	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6949150	0.95[EUR][1000 genomes]
rs6951288	0.80[EUR][1000 genomes]
rs6953980	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6956781	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6957434	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6957771	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6967389	0.92[EUR][1000 genomes]
rs6968713	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6975451	0.95[EUR][1000 genomes]
rs6976005	0.92[EUR][1000 genomes]
rs6977145	0.95[EUR][1000 genomes]
rs73406284	0.95[EUR][1000 genomes]
rs73406302	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73408204	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73408241	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73408250	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7779145	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7779618	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7796335	0.95[EUR][1000 genomes]
rs7804322	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs847646	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs847652	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847656	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs847658	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs865865	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9690210	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr7:102574600-102594400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:102590200-102594000	Strong transcription	K562	blood
3	chr7:102591000-102619400	Weak transcription	HSMM	muscle
4	chr7:102592600-102595200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:102592800-102593600	Enhancers	Monocytes-CD14+_RO01746	blood

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