Variant report

Variant	rs2466295
Chromosome Location	chr8:118185041-118185042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10101934	0.88[ASN][1000 genomes]
rs13267156	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2464573	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2464591	0.97[ASN][1000 genomes]
rs2464592	0.88[ASW][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.82[MEX][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2466291	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2466292	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2466294	0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2466296	0.81[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs2466297	0.81[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs2466298	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2466299	0.81[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs2466300	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2466309	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2466311	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2466318	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2466320	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1031711	chr8:118134669-118322562	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1027039	chr8:118143762-118460954	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv819890	chr8:118184979-118185159	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118178800-118185600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr8:118182600-118185400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:118183000-118186000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:118183200-118185200	Enhancers	Fetal Intestine Large	intestine
5	chr8:118183400-118185200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:118183400-118185200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:118184000-118185200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:118184000-118185400	Enhancers	Fetal Heart	heart
9	chr8:118185000-118186400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:118185000-118187000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:118185000-118187000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:118185000-118187600	Weak transcription	Fetal Brain Female	brain

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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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