Variant report

Variant	rs17140496
Chromosome Location	chr5:116095575-116095576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17140561	1.00[EUR][1000 genomes]
rs2220747	1.00[EUR][1000 genomes]
rs55653827	1.00[EUR][1000 genomes]
rs55728603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55925406	1.00[EUR][1000 genomes]
rs58071496	1.00[EUR][1000 genomes]
rs59080289	1.00[EUR][1000 genomes]
rs59717285	1.00[EUR][1000 genomes]
rs73257125	1.00[EUR][1000 genomes]
rs73257127	1.00[EUR][1000 genomes]
rs73257131	1.00[EUR][1000 genomes]
rs73259195	1.00[EUR][1000 genomes]
rs73260904	1.00[EUR][1000 genomes]
rs73260905	1.00[EUR][1000 genomes]
rs73780644	1.00[EUR][1000 genomes]
rs7715878	1.00[EUR][1000 genomes]
rs9688176	1.00[EUR][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	esv2763490	chr5:115918339-116138525	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116087600-116095600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:116090600-116095600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:116093000-116095600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:116093200-116095800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:116094400-116096200	Enhancers	HSMMtube	muscle
6	chr5:116094400-116099200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:116094600-116096400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:116094800-116096800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:116095000-116096800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:116095000-116097200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:116095000-116098000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:116095200-116095600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:116095200-116095800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:116095200-116095800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:116095200-116096800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:116095400-116095800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:116095400-116095800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:116095400-116095800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:116095400-116096000	Enhancers	HepG2	liver

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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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