Variant report

Variant	rs1565718
Chromosome Location	chr1:76320263-76320264
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76262942..76264627-chr1:76319779..76321493,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10127768	1.00[EUR][1000 genomes]
rs1021463	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1068884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10747330	0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10873726	1.00[EUR][1000 genomes]
rs10873786	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1093007	1.00[EUR][1000 genomes]
rs1093010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11161785	0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11161801	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144330	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144332	0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1144335	1.00[EUR][1000 genomes]
rs1146575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146585	1.00[EUR][1000 genomes]
rs1146586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146589	1.00[EUR][1000 genomes]
rs1146595	1.00[EUR][1000 genomes]
rs1146596	1.00[EUR][1000 genomes]
rs1146597	1.00[EUR][1000 genomes]
rs1146599	1.00[EUR][1000 genomes]
rs1146600	1.00[EUR][1000 genomes]
rs1146601	1.00[EUR][1000 genomes]
rs1146604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146621	1.00[EUR][1000 genomes]
rs1146633	0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1250879	1.00[EUR][1000 genomes]
rs1251066	1.00[EUR][1000 genomes]
rs1251074	1.00[EUR][1000 genomes]
rs1251271	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251499	1.00[EUR][1000 genomes]
rs1251532	1.00[EUR][1000 genomes]
rs1251538	1.00[EUR][1000 genomes]
rs1251554	1.00[EUR][1000 genomes]
rs1251559	1.00[EUR][1000 genomes]
rs1251563	1.00[EUR][1000 genomes]
rs1251585	1.00[AMR][1000 genomes]
rs1251589	1.00[EUR][1000 genomes]
rs1251590	1.00[EUR][1000 genomes]
rs1251592	1.00[EUR][1000 genomes]
rs1251593	1.00[EUR][1000 genomes]
rs1469988	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1565719	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1591119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1616175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1658743	0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1658745	0.88[YRI][hapmap]
rs1658748	0.82[AFR][1000 genomes]
rs1694408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1694423	1.00[EUR][1000 genomes]
rs17098016	1.00[EUR][1000 genomes]
rs17098027	1.00[EUR][1000 genomes]
rs1759276	1.00[AMR][1000 genomes]
rs1770514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770884	0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770886	0.93[YRI][hapmap]
rs1770888	0.86[YRI][hapmap]
rs1770891	0.88[YRI][hapmap]
rs1796809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1796811	0.93[YRI][hapmap]
rs1873895	1.00[AMR][1000 genomes]
rs2047051	0.90[AFR][1000 genomes]
rs2347963	0.81[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3119821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs381183	1.00[EUR][1000 genomes]
rs3819949	0.86[YRI][hapmap]
rs445008	1.00[EUR][1000 genomes]
rs5745532	0.88[YRI][hapmap]
rs699684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699687	1.00[EUR][1000 genomes]
rs699688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699689	1.00[EUR][1000 genomes]
rs699823	1.00[EUR][1000 genomes]
rs699826	1.00[EUR][1000 genomes]
rs7541791	1.00[EUR][1000 genomes]
rs814846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs814852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs814854	1.00[EUR][1000 genomes]
rs815300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs815302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs815312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs865263	1.00[AMR][1000 genomes]
rs9437227	1.00[EUR][1000 genomes]
rs946982	1.00[EUR][1000 genomes]
rs995972	0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	esv1795237	chr1:76268573-76383565	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1800125	chr1:76269439-76379497	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1799260	chr1:76269439-76383297	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1847721	chr1:76269439-76383565	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1004669	chr1:76301198-76409451	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv871671	chr1:76304215-76391646	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76319600-76327400	Weak transcription	Aorta	Aorta
2	chr1:76320000-76320400	Enhancers	Hela-S3	cervix
3	chr1:76320000-76320400	Enhancers	HMEC	breast
4	chr1:76320000-76320800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:76320000-76321400	Enhancers	HepG2	liver
6	chr1:76320000-76321400	Enhancers	K562	blood
7	chr1:76320200-76320400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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