Variant report

Variant	rs4240322
Chromosome Location	chr4:119792297-119792298
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:10)

rs_ID	r²[population]
rs10471012	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10857061	0.85[ASN][1000 genomes]
rs1365548	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1896185	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2017575	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2389691	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2892829	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4834708	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs6830196	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7676892	0.86[EUR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 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	chr4:119786800-119793200	Weak transcription	NHEK	skin
2	chr4:119790600-119792400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr4:119791200-119792400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:119791200-119794400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:119791400-119803000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:119791400-119809800	Weak transcription	Left Ventricle	heart
7	chr4:119791600-119797200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:119792000-119797200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:119792200-119797000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:119792200-119797000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:119792200-119802600	Weak transcription	iPS-18 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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