Variant report

Variant	rs7538125
Chromosome Location	chr1:170451474-170451475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10733056	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10753814	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10753815	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10800527	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs10919425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10919434	1.00[AMR][1000 genomes]
rs12062348	1.00[AMR][1000 genomes]
rs12072089	1.00[AMR][1000 genomes]
rs12087798	1.00[AMR][1000 genomes]
rs12088253	1.00[AMR][1000 genomes]
rs12116909	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333133	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333142	0.96[YRI][hapmap]
rs1333146	0.80[AFR][1000 genomes]
rs1333150	0.92[AFR][1000 genomes]
rs1333151	0.82[AFR][1000 genomes]
rs1333153	0.82[AFR][1000 genomes]
rs1333154	0.82[AFR][1000 genomes]
rs1333155	1.00[AFR][1000 genomes]
rs1333156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412891	0.80[AFR][1000 genomes]
rs1412892	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs1412893	0.90[AFR][1000 genomes]
rs1412895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1537390	0.96[YRI][hapmap]
rs1537395	0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs1537397	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1572026	0.82[AFR][1000 genomes]
rs1572027	0.80[AFR][1000 genomes]
rs1576979	0.85[AFR][1000 genomes]
rs1576980	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1831756	0.82[AFR][1000 genomes]
rs1855221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1928716	0.96[YRI][hapmap]
rs1930632	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1930633	0.82[AFR][1000 genomes]
rs1930634	0.82[AFR][1000 genomes]
rs2104918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2150029	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2225322	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2421325	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs2901401	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3936919	0.80[AFR][1000 genomes]
rs3980839	0.92[AFR][1000 genomes]
rs4233350	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4325194	0.90[AFR][1000 genomes]
rs4402174	0.96[AFR][1000 genomes]
rs4415629	0.90[AFR][1000 genomes]
rs4469769	0.82[AFR][1000 genomes]
rs4603185	0.82[AFR][1000 genomes]
rs4656769	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656771	0.80[AFR][1000 genomes]
rs4656775	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656779	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656783	0.91[AFR][1000 genomes]
rs57462154	1.00[AMR][1000 genomes]
rs57674813	1.00[AMR][1000 genomes]
rs6427248	0.86[AFR][1000 genomes]
rs6427249	0.86[AFR][1000 genomes]
rs6427255	0.82[AFR][1000 genomes]
rs6427260	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs6427261	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs6657164	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6660575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664037	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs6667304	0.93[AFR][1000 genomes]
rs6669308	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs6670724	0.96[AFR][1000 genomes]
rs6671312	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs6676081	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680083	1.00[AMR][1000 genomes]
rs6693763	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs6699057	0.85[AFR][1000 genomes]
rs6701004	0.82[AFR][1000 genomes]
rs6701218	0.92[YRI][hapmap];0.91[AFR][1000 genomes]
rs6703801	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523665	0.85[AFR][1000 genomes]
rs7531125	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7548443	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553254	0.96[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv947511	chr1:170447658-170454066	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170450600-170455600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:170451000-170452400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:170451000-170452400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:170451200-170456600	Weak transcription	Dnd41	blood
5	chr1:170451200-170457200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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