Variant report

Variant	rs7516292
Chromosome Location	chr1:221942413-221942414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10218652	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10779456	0.92[EUR][1000 genomes]
rs10863653	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863654	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863655	0.95[EUR][1000 genomes]
rs10863656	0.95[EUR][1000 genomes]
rs11118844	0.85[AMR][1000 genomes]
rs11118847	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11118848	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11118852	0.96[ASN][1000 genomes]
rs11118853	0.95[ASN][1000 genomes]
rs11118854	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118857	0.95[EUR][1000 genomes]
rs11118859	0.95[EUR][1000 genomes]
rs11118860	0.95[EUR][1000 genomes]
rs12070192	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12136350	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12144586	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12403995	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17010720	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4073062	0.81[EUR][1000 genomes]
rs4433402	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4589119	0.81[EUR][1000 genomes]
rs4601596	0.82[EUR][1000 genomes]
rs4623704	0.95[EUR][1000 genomes]
rs58850477	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66522549	0.85[AMR][1000 genomes]
rs6655994	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7518806	0.82[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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221933800-221945200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:221935600-221944000	Weak transcription	Pancreas	Pancrea
3	chr1:221939400-221945000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:221939800-221944000	Weak transcription	Hela-S3	cervix
5	chr1:221939800-221945200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:221940200-221942800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:221941600-221942600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:221941600-221942800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:221941600-221943000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:221941600-221943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:221941800-221943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:221942000-221942800	Enhancers	HUVEC	blood vessel

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