Variant report

Variant	rs6694088
Chromosome Location	chr1:220076288-220076289
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10863512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863513	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs11118455	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs12094370	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs17006822	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs1891562	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2378330	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs3011	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4846607	0.82[EUR][1000 genomes]
rs6694002	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs6694079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515872	0.81[EUR][1000 genomes]
rs7533348	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884127	0.98[AMR][1000 genomes];0.99[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220075200-220077400	Enhancers	Duodenum Mucosa	Duodenum
2	chr1:220075400-220077000	Enhancers	HepG2	liver
3	chr1:220075600-220077400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:220075600-220077400	Enhancers	Fetal Intestine Large	intestine
5	chr1:220075600-220077400	Enhancers	Fetal Intestine Small	intestine
6	chr1:220076200-220076400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:220076200-220076400	Genic enhancers	K562	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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