Variant report

Variant	rs62181342
Chromosome Location	chr2:172166425-172166426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1019363	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17284660	0.86[EUR][1000 genomes]
rs17285541	0.93[EUR][1000 genomes]
rs2080602	0.85[EUR][1000 genomes]
rs2356706	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4668382	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62181336	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62181337	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62181338	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62181339	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62181340	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6712315	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7562674	0.89[EUR][1000 genomes]
rs7570294	0.97[ASN][1000 genomes]
rs7570396	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7595226	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172144200-172171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172151600-172168400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:172154600-172168600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:172161800-172167200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:172163800-172181400	Weak transcription	Gastric	stomach
6	chr2:172165600-172179400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:172166200-172168000	Enhancers	HepG2	liver
8	chr2:172166400-172166600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:172166400-172166600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:172166400-172166800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:172166400-172166800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:172166400-172166800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:172166400-172166800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	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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