Variant report

Variant	rs1806346
Chromosome Location	chr5:114500528-114500529
allele	C/T
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:15)

rs_ID	r²[population]
rs10040143	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059553	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241316	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11738500	0.81[EUR][1000 genomes]
rs12657105	0.81[ASN][1000 genomes]
rs1610072	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3805589	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3805590	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6594879	0.80[EUR][1000 genomes]
rs6594881	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6859943	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894360	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7719404	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973589	0.82[EUR][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	nsv830453	chr5:114277261-114546536	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv462399	chr5:114445023-114526010	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv599477	chr5:114445023-114526010	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr5:114453800-114500600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:114469600-114500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:114472400-114504200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:114483000-114500800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:114483200-114500800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:114487000-114500800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:114494800-114500600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:114497600-114501200	Weak transcription	Gastric	stomach
9	chr5:114497600-114504200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:114497800-114500600	Weak transcription	Fetal Brain Female	brain
11	chr5:114499200-114503400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:114499400-114501200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:114499800-114504000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr5:114500200-114501200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:114500200-114502800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr5:114500200-114502800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr5:114500200-114503200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr5:114500200-114503200	ZNF genes & repeats	Brain Germinal Matrix	brain
19	chr5:114500400-114503200	ZNF genes & repeats	HUES64 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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