Variant report

Variant	rs12081771
Chromosome Location	chr1:79727234-79727235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11162665	1.00[AMR][1000 genomes]
rs11162689	1.00[AMR][1000 genomes]
rs11162690	1.00[AMR][1000 genomes]
rs12066657	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073676	1.00[AMR][1000 genomes]
rs12073877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090579	1.00[AMR][1000 genomes]
rs12094970	1.00[AMR][1000 genomes]
rs17098591	1.00[AMR][1000 genomes]
rs17102959	1.00[AMR][1000 genomes]
rs17102960	1.00[AMR][1000 genomes]
rs17102961	1.00[AMR][1000 genomes]
rs17102971	1.00[AMR][1000 genomes]
rs17103021	1.00[AMR][1000 genomes]
rs57440705	1.00[AMR][1000 genomes]
rs58229074	1.00[AMR][1000 genomes]
rs59133072	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72941388	1.00[AMR][1000 genomes]
rs72943039	1.00[AMR][1000 genomes]
rs72943069	1.00[AMR][1000 genomes]
rs72945022	1.00[AMR][1000 genomes]
rs72945043	1.00[AMR][1000 genomes]
rs72945048	1.00[AMR][1000 genomes]
rs72945064	1.00[AMR][1000 genomes]
rs72945074	1.00[AMR][1000 genomes]
rs9943263	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830326	chr1:79573379-79735667	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv999471	chr1:79650363-79774433	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv870657	chr1:79701220-79890774	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79724600-79728000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:79724800-79728000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:79725200-79728000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:79725600-79728000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:79725600-79728200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:79725800-79728000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:79725800-79728000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:79726000-79728600	Weak transcription	Fetal Stomach	stomach
9	chr1:79726000-79730000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:79726200-79727400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:79726200-79729000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:79726600-79729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:79727200-79727600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:79727200-79727800	Enhancers	H1 Cell Line	embryonic stem cell

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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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