Variant report

Variant	rs519327
Chromosome Location	chr4:152827668-152827669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10017160	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs165578	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs34787654	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs360918	0.94[EUR][1000 genomes]
rs360922	0.85[EUR][1000 genomes]
rs361136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs361156	0.94[EUR][1000 genomes]
rs361157	0.94[EUR][1000 genomes]
rs499797	0.97[EUR][1000 genomes]
rs518213	0.90[CHB][hapmap]
rs522743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs545752	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs551305	0.97[EUR][1000 genomes]
rs569802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv595731	chr4:152790580-152831309	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1030328	chr4:152791533-152875666	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1028836	chr4:152791680-152879097	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr4:152826000-152827800	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr4:152826000-152828000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:152827000-152827800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:152827000-152827800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:152827000-152831800	Weak transcription	Fetal Thymus	thymus
6	chr4:152827200-152827800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:152827400-152827800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:152827600-152827800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:152827600-152830200	Weak transcription	GM12878-XiMat	blood
10	chr4:152827600-152833200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:152827600-152833200	Weak transcription	iPS DF 6.9 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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