Variant report

Variant	rs3011
Chromosome Location	chr1:220085453-220085454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10863512	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12080020	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1891562	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4846607	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6694079	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6694088	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7515872	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7533348	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs884127	0.96[EUR][1000 genomes];0.90[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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1067840	chr1:219990803-220091941	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220077400-220086800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:220077400-220088400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:220077400-220088600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:220081200-220088000	Weak transcription	HepG2	liver
5	chr1:220081200-220088600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:220084200-220085800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:220084400-220085800	Genic enhancers	K562	blood
8	chr1:220084400-220086200	Weak transcription	Liver	Liver
9	chr1:220084800-220085600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:220085200-220085800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:220085400-220100000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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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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