Variant report

Variant	rs1948059
Chromosome Location	chr1:72468930-72468931
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:9)

rs_ID	r²[population]
rs1948060	1.00[AFR][1000 genomes]
rs2768380	0.95[AFR][1000 genomes]
rs2801327	1.00[AFR][1000 genomes]
rs2821280	0.95[AFR][1000 genomes]
rs3102904	0.85[AFR][1000 genomes]
rs3102915	0.90[AFR][1000 genomes]
rs3102927	1.00[AFR][1000 genomes]
rs61136340	0.84[AFR][1000 genomes]
rs972976	1.00[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	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1007910	chr1:72247302-72543998	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv999162	chr1:72319163-72477496	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv534995	chr1:72319163-72477496	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv428763	chr1:72353556-72499701	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1007073	chr1:72419858-72734657	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1354	chr1:72431164-72475522	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv546478	chr1:72442018-72512391	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72466400-72469200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:72466800-72471800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:72466800-72472000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:72467200-72471600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:72468400-72469000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:72468400-72469200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:72468400-72469200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:72468400-72469200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:72468400-72469400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:72468600-72469000	Enhancers	HepG2	liver
11	chr1:72468600-72469200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:72468600-72469200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:72468600-72469400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:72468600-72469400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:72468800-72469000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:72468800-72469000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr1:72468800-72469200	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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