Variant report

Variant	rs4974270
Chromosome Location	chr3:70525115-70525116
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17007269	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17007274	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4493395	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55835880	0.89[EUR][1000 genomes]
rs55891967	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55904862	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62256284	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7610220	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[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	nsv533396	chr3:69964029-70538306	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv3867	chr3:70480358-70525397	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv2762336	chr3:70516421-70527712	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	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	chr3:70524200-70525600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr3:70524200-70526400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:70524400-70525600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:70524400-70526400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:70524600-70526000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:70524800-70526000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:70524800-70526200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:70525000-70525600	Weak transcription	ES-I3 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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