Variant report

Variant	rs4974367
Chromosome Location	chr3:54384994-54384995
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13327362	0.88[ASN][1000 genomes]
rs1530733	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1868500	0.88[ASN][1000 genomes]
rs4974361	0.85[ASN][1000 genomes]
rs4974368	0.85[ASN][1000 genomes]
rs73089434	0.88[ASN][1000 genomes]
rs73089448	0.88[ASN][1000 genomes]
rs73089451	0.88[ASN][1000 genomes]
rs7431094	0.94[ASN][1000 genomes]
rs9311528	0.82[AMR][1000 genomes]
rs9841979	0.83[AMR][1000 genomes];0.80[EUR][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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv817210	chr3:54365684-54511164	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54378800-54389000	Weak transcription	Psoas Muscle	Psoas
2	chr3:54380000-54391200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:54380200-54387200	Weak transcription	Ovary	ovary
4	chr3:54382800-54387200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:54383400-54387400	Weak transcription	Left Ventricle	heart
6	chr3:54383400-54387600	Weak transcription	Right Atrium	heart
7	chr3:54383400-54392600	Weak transcription	Right Ventricle	heart
8	chr3:54384000-54392400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:54384200-54385200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:54384200-54387600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:54384800-54385800	Weak transcription	Hela-S3	cervix
12	chr3:54384800-54387200	Weak transcription	Fetal Lung	lung

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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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