Variant report

Variant	rs972976
Chromosome Location	chr1:72475447-72475448
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]
rs1948059	1.00[AFR][1000 genomes]
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]

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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72473000-72475600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:72473000-72478000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:72473200-72476000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:72475000-72475800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:72475200-72475600	Enhancers	HSMM	muscle
6	chr1:72475200-72476000	Enhancers	HSMMtube	muscle
7	chr1:72475200-72476400	Enhancers	Thymus	Thymus
8	chr1:72475200-72476600	Enhancers	Dnd41	blood
9	chr1:72475400-72475800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr1:72475400-72475800	Enhancers	Fetal Lung	lung
11	chr1:72475400-72476000	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:72475400-72476000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:72475400-72476000	Enhancers	Fetal Stomach	stomach
14	chr1:72475400-72476600	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:72475400-72476600	Enhancers	Fetal Thymus	thymus
16	chr1:72475400-72478400	Enhancers	Fetal Heart	heart

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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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