Variant report

Variant	rs61287523
Chromosome Location	chr1:76515095-76515096
allele	G/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:19)

rs_ID	r²[population]
rs11800149	0.92[AFR][1000 genomes]
rs17097903	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17097930	0.85[AMR][1000 genomes]
rs17097987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097991	0.85[AMR][1000 genomes]
rs17098000	0.85[AMR][1000 genomes]
rs56157193	0.85[AFR][1000 genomes]
rs56320696	0.81[AFR][1000 genomes]
rs59469604	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72986699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72988538	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091550	0.83[AMR][1000 genomes]
rs74091558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7512384	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523556	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535776	0.83[AFR][1000 genomes]
rs7536525	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7545248	0.85[AMR][1000 genomes]
rs7545733	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2754129	chr1:76489579-76529279	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv947186	chr1:76512447-76530843	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	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	chr1:76513600-76515200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:76513600-76515400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:76513800-76515400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:76513800-76515400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:76513800-76515400	Enhancers	Fetal Brain Male	brain
6	chr1:76514000-76515200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:76514000-76515400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:76514000-76515400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:76514200-76515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:76514200-76518600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:76514400-76517800	Weak transcription	Fetal Stomach	stomach
12	chr1:76514400-76518600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:76514600-76515400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:76515000-76515200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:76515000-76515200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:76515000-76515400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:76515000-76518600	Weak transcription	Fetal Lung	lung

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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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