Variant report

Variant	rs17092139
Chromosome Location	chr1:72489573-72489574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17091931	1.00[YRI][hapmap]
rs17091983	1.00[YRI][hapmap]
rs17091998	1.00[YRI][hapmap]
rs17092001	1.00[YRI][hapmap]
rs17092003	1.00[YRI][hapmap]
rs17092006	1.00[YRI][hapmap]
rs17092051	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092057	1.00[YRI][hapmap]
rs17092140	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092186	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097655	0.83[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684905	0.83[YRI][hapmap];0.87[AFR][1000 genomes]
rs6688967	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7546373	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv428763	chr1:72353556-72499701	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	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
6	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
7	nsv1006076	chr1:72477436-72700903	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv534996	chr1:72477436-72700903	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72484600-72489600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:72484800-72490200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:72488400-72490800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:72488600-72489600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:72488600-72489800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:72488800-72490800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr1:72489000-72490600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:72489000-72490600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:72489200-72490600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:72489400-72489800	Enhancers	Fetal Brain Female	brain
11	chr1:72489400-72490600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:72489400-72490800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:72489400-72493400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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