Variant report

Variant	rs72945408
Chromosome Location	chr2:211725116-211725117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1016403	0.86[EUR][1000 genomes]
rs1080927	0.84[AMR][1000 genomes]
rs55828037	1.00[AFR][1000 genomes]
rs57027864	0.92[EUR][1000 genomes]
rs72943701	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72945406	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7574001	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536136	chr2:211497528-211830019	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv522114	chr2:211619571-211765062	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1008054	chr2:211633148-211744687	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1013898	chr2:211634275-211744687	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1012660	chr2:211634902-211744687	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv875768	chr2:211648806-211807729	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875769	chr2:211680401-211782699	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv875770	chr2:211682987-211782699	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1012193	chr2:211684524-212072213	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv875771	chr2:211690173-211782699	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211723000-211728000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:211723000-211728000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:211723200-211728200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:211723400-211726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:211723600-211725800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:211723800-211727000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:211724000-211727400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:211724200-211726400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:211724400-211725200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:211724400-211725200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:211724400-211726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:211724600-211725600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:211725000-211725400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:211725000-211725400	Enhancers	Brain Germinal Matrix	brain

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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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