Variant report

Variant	rs58213017
Chromosome Location	chr1:194038711-194038712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11801619	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802752	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802890	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803098	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803315	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806654	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442425	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17549979	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17550508	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17615756	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17615792	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1966754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831360	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831361	1.00[ASN][1000 genomes]
rs61831363	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831392	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61831393	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61831422	0.86[EUR][1000 genomes]
rs61833037	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61833038	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73064721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73064723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73064752	0.85[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	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv872835	chr1:194014041-194051568	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1001872	chr1:194030479-194288016	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv872836	chr1:194032486-194130204	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194032200-194043000	Weak transcription	Right Atrium	heart
2	chr1:194033800-194040400	Weak transcription	HUVEC	blood vessel
3	chr1:194037000-194038800	Enhancers	Ovary	ovary
4	chr1:194037200-194039600	Enhancers	Fetal Heart	heart
5	chr1:194037600-194038800	Enhancers	Adipose Nuclei	Adipose
6	chr1:194037800-194042400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:194038000-194040800	Enhancers	Fetal Brain Male	brain
8	chr1:194038400-194039400	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:194038600-194038800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:194038600-194039000	Enhancers	Aorta	Aorta
11	chr1:194038600-194039000	Enhancers	Left Ventricle	heart
12	chr1:194038600-194039200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr1:194038600-194039200	Enhancers	Stomach Smooth Muscle	stomach
14	chr1:194038600-194039400	Enhancers	Colon Smooth Muscle	Colon
15	chr1:194038600-194042000	Enhancers	Brain Germinal Matrix	brain

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