Variant report

Variant	rs17023399
Chromosome Location	chr1:119840490-119840491
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1341799	1.00[AMR][1000 genomes]
rs17023397	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023406	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023407	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023438	1.00[AMR][1000 genomes]
rs17023448	1.00[AMR][1000 genomes]
rs33920337	1.00[AMR][1000 genomes]
rs4514280	1.00[AMR][1000 genomes]
rs4659155	1.00[AMR][1000 genomes]
rs57010239	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv831192	chr1:119671172-119843226	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv547615	chr1:119828542-119875730	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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	41 gene(s)	inside rSNPs	diseases
7	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr1:119823000-119840600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:119837000-119846200	Weak transcription	Liver	Liver
3	chr1:119837200-119841200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:119837200-119841400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:119837800-119840800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:119837800-119841000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:119838000-119840600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:119838000-119841000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:119838200-119840800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:119838200-119846000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:119838200-119846200	Weak transcription	HepG2	liver
12	chr1:119838400-119846200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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