Variant report

Variant	rs73782502
Chromosome Location	chr5:116146195-116146196
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:16)

rs_ID	r²[population]
rs17140561	1.00[AMR][1000 genomes]
rs17140586	0.83[AFR][1000 genomes]
rs55925406	1.00[AMR][1000 genomes]
rs57071614	1.00[AMR][1000 genomes]
rs58290332	1.00[AMR][1000 genomes]
rs58595570	1.00[AMR][1000 genomes]
rs59717285	1.00[AMR][1000 genomes]
rs59977726	1.00[AMR][1000 genomes]
rs60389184	1.00[AMR][1000 genomes]
rs6893932	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73782483	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782484	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782485	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782486	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782500	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9688176	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830456	chr5:115969066-116170718	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv462403	chr5:115994775-116284378	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv599485	chr5:115994775-116284378	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1030056	chr5:116008971-116278725	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1033140	chr5:116035131-116314673	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1027701	chr5:116138286-116185586	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116143000-116146200	Weak transcription	HepG2	liver
2	chr5:116143200-116146200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:116145000-116148000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:116145400-116147200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:116145600-116147400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:116145800-116147400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:116146000-116146200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:116146000-116146400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:116146000-116146800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:116146000-116147000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:116146000-116147200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:116146000-116147200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:116146000-116147200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:116146000-116147200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:116146000-116147200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:116146000-116147600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr5:116146000-116147600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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