Variant report

Variant	rs1066768
Chromosome Location	chr2:189557792-189557793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10209259	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1066767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1084169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1850551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2660921	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698560	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781453	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1842768	chr2:189555506-189635696	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189555400-189560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189556800-189558800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:189557000-189559000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:189557200-189558200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:189557200-189558600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:189557200-189559000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:189557400-189557800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:189557400-189558600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:189557600-189558200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:189557600-189558600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:189557600-189558600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:189557600-189558600	Enhancers	NHEK	skin
13	chr2:189557600-189558800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:189557600-189558800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:189557600-189558800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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