Variant report

Variant	rs73988637
Chromosome Location	chr2:209771142-209771143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55836807	0.84[AFR][1000 genomes]
rs60615254	0.89[AFR][1000 genomes]
rs73985813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985815	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985817	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985818	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985820	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985838	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986660	0.89[AFR][1000 genomes]
rs73986689	0.89[AFR][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	nsv875758	chr2:209676037-209784089	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv875759	chr2:209692190-209784089	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv460058	chr2:209755059-209866395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv584306	chr2:209755059-209866395	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1012184	chr2:209755847-210049331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv536131	chr2:209755847-210049331	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3487576	chr2:209768379-209947296	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3487577	chr2:209768379-209947296	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3412809	chr2:209769495-209791584	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3337568	chr2:209769495-209802099	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209770000-209772000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:209770000-209772200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:209770200-209772200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:209770800-209771600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:209770800-209771600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr2:209770800-209772400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:209771000-209771200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:209771000-209771600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:209771000-209772000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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