Variant report

Variant	rs60415045
Chromosome Location	chr2:169771124-169771125
allele	A/C
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:16)

rs_ID	r²[population]
rs10497347	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12053049	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13389076	0.83[ASN][1000 genomes]
rs13419326	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16856187	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16856247	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16856252	0.81[ASN][1000 genomes]
rs28819151	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755157	0.85[ASN][1000 genomes]
rs3755158	0.80[ASN][1000 genomes]
rs4144857	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4144858	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148804	0.85[ASN][1000 genomes]
rs484066	0.80[ASN][1000 genomes]
rs504979	0.83[ASN][1000 genomes]
rs73972707	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169768400-169771400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr2:169768600-169771400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:169769400-169772200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:169769800-169771400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:169769800-169771600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:169769800-169771600	Enhancers	Fetal Brain Male	brain
7	chr2:169769800-169773400	Enhancers	Fetal Brain Female	brain
8	chr2:169770000-169772200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:169770200-169771600	Weak transcription	Brain Germinal Matrix	brain
10	chr2:169770400-169772000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:169770600-169778600	Weak transcription	Liver	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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