Variant report

Variant	rs12091682
Chromosome Location	chr1:239796721-239796722
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10925928	0.84[EUR][1000 genomes]
rs10925933	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10925935	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10925936	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11806179	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12074325	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12088433	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12088787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096150	1.00[EUR][1000 genomes]
rs16838569	0.84[EUR][1000 genomes]
rs16838659	0.90[EUR][1000 genomes]
rs17597661	0.80[EUR][1000 genomes]
rs1899611	0.83[EUR][1000 genomes]
rs9659747	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers 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
4	nsv873352	chr1:239755406-239798412	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2757778	chr1:239766094-240389504	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv2759009	chr1:239766094-240389504	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv468628	chr1:239774670-239812103	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv468639	chr1:239774670-239812103	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv549438	chr1:239774670-239812103	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv549439	chr1:239785165-239800028	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239793200-239797200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:239793600-239797000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:239794400-239808200	Weak transcription	Pancreas	Pancrea
4	chr1:239794600-239798400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:239794800-239797200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:239795200-239796800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:239795400-239799600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:239796600-239797000	Enhancers	Gastric	stomach
9	chr1:239796600-239797200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:239796600-239797200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:239796600-239797200	Enhancers	Small Intestine	intestine
12	chr1:239796600-239797400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:239796600-239797600	Enhancers	HUES6 Cell Line	embryonic stem cell

Quick Search:

Input of quick search could be:

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

what's new

Quick links