Variant report

Variant	rs1917780
Chromosome Location	chr3:133598675-133598676
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1104916	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1358020	0.82[AMR][1000 genomes]
rs1525886	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880667	0.89[ASN][1000 genomes]
rs1917778	0.81[AFR][1000 genomes]
rs1917781	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1949881	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692677	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2692680	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2692681	0.82[ASN][1000 genomes]
rs2692685	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2715618	0.82[ASN][1000 genomes]
rs2715624	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2715629	0.82[ASN][1000 genomes]
rs2715633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2887814	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs940898	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs940900	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9811568	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133590600-133606600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:133592000-133602000	Weak transcription	Brain Angular Gyrus	brain
3	chr3:133592400-133602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:133592400-133605800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:133596200-133600000	Weak transcription	K562	blood
6	chr3:133596400-133613600	Weak transcription	Gastric	stomach
7	chr3:133598200-133599200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr3:133598200-133599800	Enhancers	Brain Anterior Caudate	brain
9	chr3:133598200-133599800	Enhancers	Brain Substantia Nigra	brain
10	chr3:133598200-133601400	ZNF genes & repeats	Brain Germinal Matrix	brain
11	chr3:133598400-133599000	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:133598400-133599400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:133598400-133600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:133598600-133598800	Strong transcription	Fetal Brain Male	brain
15	chr3:133598600-133600000	Weak transcription	Fetal Brain Female	brain
16	chr3:133598600-133602800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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