Variant report

Variant	rs570876
Chromosome Location	chr2:169765377-169765378
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13387347	0.88[EUR][1000 genomes]
rs3821117	0.85[AFR][1000 genomes]
rs491443	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492594	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs519884	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs540524	0.89[ASN][1000 genomes]
rs567243	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv459943	chr2:169756930-169799010	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv583600	chr2:169756930-169799010	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169762200-169765800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:169763200-169765400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr2:169763400-169765400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:169763600-169766400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:169763800-169766800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:169764400-169765400	Enhancers	K562	blood
7	chr2:169764400-169768400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:169764400-169768400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:169764600-169768400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:169764600-169768600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:169764800-169765800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:169764800-169766600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:169764800-169768200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:169765000-169766400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:169765200-169766600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:169765200-169766600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:169765200-169766600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:169765200-169766800	Weak transcription	iPS-20b 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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