Variant report

Variant	rs319851
Chromosome Location	chr2:115543018-115543019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10180031	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10188948	0.89[ASN][1000 genomes]
rs10514813	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1519668	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1519669	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1996620	0.85[EUR][1000 genomes]
rs2574111	0.96[ASN][1000 genomes]
rs319846	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs319847	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs319848	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs319849	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs319850	0.94[ASN][1000 genomes]
rs319852	0.96[ASN][1000 genomes]
rs6542221	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6542223	0.91[ASN][1000 genomes]
rs7568289	0.87[ASN][1000 genomes]
rs7585051	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv431502	chr2:115139566-115617936	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv582715	chr2:115495142-115573499	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv459019	chr2:115495142-115599013	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv874910	chr2:115515053-115543018	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv874911	chr2:115515053-115554390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv437513	chr2:115520205-115543018	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv874915	chr2:115520205-115554390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv1001709	chr2:115530458-115546549	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
10	nsv526597	chr2:115535141-115543018	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
11	nsv1001980	chr2:115539567-115551331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115539800-115545000	Weak transcription	Brain Substantia Nigra	brain
2	chr2:115539800-115547000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:115541600-115546800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:115542000-115546600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:115542400-115543400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:115542600-115543200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:115542600-115543200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:115543000-115543200	Enhancers	H1 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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