Variant report

Variant	rs1469717
Chromosome Location	chr4:124820655-124820656
allele	A/G
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]
rs1854	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2060284	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3097930	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113365	0.81[ASN][1000 genomes]
rs3113368	0.93[ASN][1000 genomes]
rs72672815	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9790839	0.91[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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv432623	chr4:124780908-124851395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv830049	chr4:124793932-124955708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124818400-124821000	Enhancers	HUVEC	blood vessel
2	chr4:124818400-124826200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:124820200-124820800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:124820200-124820800	Enhancers	Psoas Muscle	Psoas
5	chr4:124820200-124821000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:124820200-124821000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:124820200-124821000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:124820400-124820800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:124820400-124821000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:124820400-124821000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:124820600-124820800	Enhancers	Left Ventricle	heart
12	chr4:124820600-124821000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:124820600-124821000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:124820600-124821000	Enhancers	Right Atrium	heart

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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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