Variant report

Variant	rs58715158
Chromosome Location	chr2:189240580-189240581
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:17)

rs_ID	r²[population]
rs11678294	0.85[AFR][1000 genomes]
rs11683340	0.85[AFR][1000 genomes]
rs58718952	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59329932	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036471	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036479	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040411	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040428	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040439	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040441	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040442	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040450	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040454	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7592433	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7592539	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7598380	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
2	chr2:189211000-189243400	Weak transcription	HUVEC	blood vessel
3	chr2:189218800-189248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:189224400-189247000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:189229200-189243000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:189229400-189242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:189230800-189248200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:189235000-189244600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:189235000-189246800	Weak transcription	Psoas Muscle	Psoas
10	chr2:189235000-189248800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:189237000-189244200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:189237400-189244800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:189237600-189246400	Weak transcription	A549	lung
14	chr2:189238200-189249000	Weak transcription	Fetal Lung	lung
15	chr2:189239600-189247600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:189240000-189247200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:189240000-189248000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:189240200-189249000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:189240400-189246000	Weak transcription	NHLF	lung

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

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