Variant report

Variant	rs1146608
Chromosome Location	chr1:76240919-76240920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10465725	0.92[EUR][1000 genomes]
rs11161872	0.88[AMR][1000 genomes]
rs1144329	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146594	0.85[EUR][1000 genomes]
rs1146603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146605	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146611	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146612	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146614	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146615	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146618	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146622	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1146624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146629	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146641	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12074938	0.92[EUR][1000 genomes]
rs12079065	0.92[EUR][1000 genomes]
rs12079211	0.92[EUR][1000 genomes]
rs12079950	0.88[AMR][1000 genomes]
rs12081631	0.92[EUR][1000 genomes]
rs12093817	0.84[EUR][1000 genomes]
rs12094698	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13376397	0.92[EUR][1000 genomes]
rs17097567	0.92[EUR][1000 genomes]
rs17097710	0.92[EUR][1000 genomes]
rs55781251	0.83[EUR][1000 genomes]
rs55977041	0.92[EUR][1000 genomes]
rs56322662	0.92[EUR][1000 genomes]
rs56364153	0.83[EUR][1000 genomes]
rs57443433	0.92[EUR][1000 genomes]
rs5745309	0.92[EUR][1000 genomes]
rs5745418	0.92[EUR][1000 genomes]
rs57798497	0.92[EUR][1000 genomes]
rs58125729	0.92[EUR][1000 genomes]
rs59723961	0.92[EUR][1000 genomes]
rs59932454	0.92[EUR][1000 genomes]
rs60219146	0.83[EUR][1000 genomes]
rs61612438	0.92[EUR][1000 genomes]
rs74088996	0.83[EUR][1000 genomes]
rs74088997	0.83[EUR][1000 genomes]
rs74088999	0.83[EUR][1000 genomes]
rs74090705	0.83[EUR][1000 genomes]
rs74090716	0.92[EUR][1000 genomes]
rs74090717	0.92[EUR][1000 genomes]
rs74090720	0.92[EUR][1000 genomes]
rs74090724	0.92[EUR][1000 genomes]
rs74090726	0.92[EUR][1000 genomes]
rs74090729	0.92[EUR][1000 genomes]
rs74090734	0.92[EUR][1000 genomes]
rs74090737	0.92[EUR][1000 genomes]
rs74090744	0.92[EUR][1000 genomes]
rs7512465	0.92[EUR][1000 genomes]
rs815310	0.92[EUR][1000 genomes]
rs815311	0.92[EUR][1000 genomes]
rs9970840	0.92[EUR][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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv2763563	chr1:76229839-76245374	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76227400-76249800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:76232800-76243200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:76234000-76241000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:76234600-76241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:76238000-76241200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:76238200-76241000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:76238200-76241400	Weak transcription	NHEK	skin
8	chr1:76240600-76241400	Enhancers	K562	blood

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