Variant report

Variant	rs73119609
Chromosome Location	chr7:53023504-53023505
allele	A/C
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:13)

rs_ID	r²[population]
rs11764198	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11764976	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34823614	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59764082	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66517709	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7776934	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781160	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7781636	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7781645	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7793897	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7794784	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7799120	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799263	0.90[AFR][1000 genomes];0.91[ASN][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	nsv888027	chr7:52588348-53190508	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1017676	chr7:52932139-53350524	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831001	chr7:53003534-53152783	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv607008	chr7:53009355-53068819	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
5	nsv464449	chr7:53009493-53026365	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv607009	chr7:53009493-53026365	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	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	chr7:53017200-53026200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:53017200-53026800	Weak transcription	Fetal Heart	heart
3	chr7:53022600-53024000	Enhancers	HUVEC	blood vessel
4	chr7:53022600-53025200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:53023000-53023600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:53023000-53025000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:53023000-53031000	Enhancers	Placenta	Placenta
8	chr7:53023200-53024000	Enhancers	Ovary	ovary
9	chr7:53023200-53024200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:53023200-53024800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:53023200-53024800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:53023400-53023600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:53023400-53023800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:53023400-53024600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:53023400-53025000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:53023400-53025400	Enhancers	iPS-15b 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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